Associations of autozygosity with a broad range of human phenotypes

David W. Clark, Yukinori Okada, Kristjan H.S. Moore, Dan Mason, Nicola Pirastu, Ilaria Gandin, Hannele Mattsson, Catriona L.K. Barnes, Kuang Lin, Jing Hua Zhao, Patrick Deelen, Rebecca Rohde, Claudia Schurmann, Xiuqing Guo, Franco Giulianini, Weihua Zhang, Carolina Medina-Gomez, Robert Karlsson, Yanchun Bao, Traci M. BartzClemens Baumbach, Ginevra Biino, Matthew J. Bixley, Marco Brumat, Jin Fang Chai, Tanguy Corre, Diana L. Cousminer, Annelot M. Dekker, David A. Eccles, Kristel R. van Eijk, Christian Fuchsberger, He Gao, Marine Germain, Scott D. Gordon, Hugoline G. de Haan, Sarah E. Harris, Edith Hofer, Alicia Huerta-Chagoya, Catherine Igartua, Iris E. Jansen, Yucheng Jia, Tim Kacprowski, Torgny Karlsson, Marcus E. Kleber, Shengchao Alfred Li, Ruifang Li-Gao, Anubha Mahajan, Koichi Matsuda, Karina Meidtner, Weihua Meng, May E. Montasser, Peter J. van der Most, Matthias Munz, Teresa Nutile, Teemu Palviainen, Gauri Prasad, Rashmi B. Prasad, Tallapragada Divya Sri Priyanka, Federica Rizzi, Erika Salvi, Bishwa R. Sapkota, Daniel Shriner, Line Skotte, Melissa C. Smart, Albert Vernon Smith, Ashley van der Spek, Cassandra N. Spracklen, Rona J. Strawbridge, Salman M. Tajuddin, Stella Trompet, Constance Turman, Niek Verweij, Clara Viberti, Lihua Wang, Helen R. Warren, Robyn E. Wootton, Lisa R. Yanek, Jie Yao, Noha A. Yousri, Wei Zhao, Adebowale A. Adeyemo, Saima Afaq, Carlos Alberto Aguilar-Salinas, Masato Akiyama, Matthew L. Albert, Matthew A. Allison, Maris Alver, Tin Aung, Fereidoun Azizi, Amy R. Bentley, Heiner Boeing, Eric Boerwinkle, Judith B. Borja, Gert J. de Borst, Erwin P. Bottinger, Linda Broer, Harry Campbell, Stephen Chanock, Miao Li Chee, Guanjie Chen, Yii Der I. Chen, Zhengming Chen, Yen Feng Chiu, Massimiliano Cocca, Francis S. Collins, Maria Pina Concas, Janie Corley, Giovanni Cugliari, Rob M. van Dam, Anna Damulina, Maryam S. Daneshpour, Felix R. Day, Graciela E. Delgado, Klodian Dhana, Alexander S.F. Doney, Marcus Dörr, Ayo P. Doumatey, Nduna Dzimiri, S. Sunna Ebenesersdóttir, Joshua Elliott, Paul Elliott, Ralf Ewert, Janine F. Felix, Krista Fischer, Barry I. Freedman, Giorgia Girotto, Anuj Goel, Martin Gögele, Mark O. Goodarzi, Mariaelisa Graff, Einat Granot-Hershkovitz, Francine Grodstein, Simonetta Guarrera, Daniel F. Gudbjartsson, Kamran Guity, Bjarni Gunnarsson, Yu Guo, Saskia P. Hagenaars, Christopher A. Haiman, Avner Halevy, Tamara B. Harris, Mehdi Hedayati, David A. van Heel, Makoto Hirata, Imo Höfer, Chao Agnes Hsiung, Jinyan Huang, Yi Jen Hung, M. Arfan Ikram, Anuradha Jagadeesan, Pekka Jousilahti, Yoichiro Kamatani, Masahiro Kanai, Nicola D. Kerrison, Thorsten Kessler, Kay Tee Khaw, Chiea Chuen Khor, Dominique P.V. de Kleijn, Woon Puay Koh, Ivana Kolcic, Peter Kraft, Bernhard K. Krämer, Zoltán Kutalik, Johanna Kuusisto, Claudia Langenberg, Lenore J. Launer, Deborah A. Lawlor, I. Te Lee, Wen Jane Lee, Markus M. Lerch, Liming Li, Jianjun Liu, Marie Loh, Stephanie J. London, Stephanie Loomis, Yingchang Lu, Jian’an Luan, Reedik Mägi, Ani W. Manichaikul, Paolo Manunta, Gísli Másson, Nana Matoba, Xue W. Mei, Christa Meisinger, Thomas Meitinger, Massimo Mezzavilla, Lili Milani, Iona Y. Millwood, Yukihide Momozawa, Amy Moore, Pierre Emmanuel Morange, Hortensia Moreno-Macías, Trevor A. Mori, Alanna C. Morrison, Taulant Muka, Yoshinori Murakami, Alison D. Murray, Renée de Mutsert, Josyf C. Mychaleckyj, Mike A. Nalls, Matthias Nauck, Matt J. Neville, Ilja M. Nolte, Ken K. Ong, Lorena Orozco, Sandosh Padmanabhan, Gunnar Pálsson, James S. Pankow, Cristian Pattaro, Alison Pattie, Ozren Polasek, Neil Poulter, Peter P. Pramstaller, Lluis Quintana-Murci, Katri Räikkönen, Sarju Ralhan, Dabeeru C. Rao, Wouter van Rheenen, Stephen S. Rich, Paul M. Ridker, Cornelius A. Rietveld, Antonietta Robino, Frank J.A. van Rooij, Daniela Ruggiero, Yasaman Saba, Charumathi Sabanayagam, Maria Sabater-Lleal, Cinzia Felicita Sala, Veikko Salomaa, Kevin Sandow, Helena Schmidt, Laura J. Scott, William R. Scott, Bahareh Sedaghati-Khayat, Bengt Sennblad, Jessica van Setten, Peter J. Sever, Wayne H.H. Sheu, Yuan Shi, Smeeta Shrestha, Sharvari Rahul Shukla, Jon K. Sigurdsson, Timo Tonis Sikka, Jai Rup Singh, Blair H. Smith, Alena Stančáková, Alice Stanton, John M. Starr, Lilja Stefansdottir, Leon Straker, Patrick Sulem, Gardar Sveinbjornsson, Morris A. Swertz, Adele M. Taylor, Kent D. Taylor, Natalie Terzikhan, Yih Chung Tham, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Annika Tillander, Russell P. Tracy, Teresa Tusié-Luna, Ioanna Tzoulaki, Simona Vaccargiu, Jagadish Vangipurapu, Jan H. Veldink, Veronique Vitart, Uwe Völker, Eero Vuoksimaa, Salma M. Wakil, Melanie Waldenberger, Gurpreet S. Wander, Ya Xing Wang, Nicholas J. Wareham, Sarah Wild, Chittaranjan S. Yajnik, Jian Min Yuan, Lingyao Zeng, Liang Zhang, Jie Zhou, Najaf Amin, Folkert W. Asselbergs, Stephan J.L. Bakker, Diane M. Becker, Benjamin Lehne, David A. Bennett, Leonard H. van den Berg, Sonja I. Berndt, Dwaipayan Bharadwaj, Lawrence F. Bielak, Murielle Bochud, Mike Boehnke, Claude Bouchard, Jonathan P. Bradfield, Jennifer A. Brody, Archie Campbell, Shai Carmi, Mark J. Caulfield, David Cesarini, John C. Chambers, Giriraj Ratan Chandak, Ching Yu Cheng, Marina Ciullo, Marilyn Cornelis, Daniele Cusi, George Davey Smith, Ian J. Deary, Rajkumar Dorajoo, Cornelia M. van Duijn, David Ellinghaus, Jeanette Erdmann, Johan G. Eriksson, Evangelos Evangelou, Michele K. Evans, Jessica D. Faul, Bjarke Feenstra, Mary Feitosa, Sylvain Foisy, Andre Franke, Yechiel Friedlander, Paolo Gasparini, Christian Gieger, Clicerio Gonzalez, Philippe Goyette, Struan F.A. Grant, Lyn R. Griffiths, Leif Groop, Vilmundur Gudnason, Ulf Gyllensten, Hakon Hakonarson, Anders Hamsten, Pim van der Harst, Chew Kiat Heng, Andrew A. Hicks, Hagit Hochner, Heikki Huikuri, Steven C. Hunt, Vincent W.V. Jaddoe, Philip L. De Jager, Magnus Johannesson, Åsa Johansson, Jost B. Jonas, J. Wouter Jukema, Juhani Junttila, Jaakko Kaprio, Sharon L.R. Kardia, Fredrik Karpe, Meena Kumari, Markku Laakso, Sander W. van der Laan, Jari Lahti, Matthias Laudes, Rodney A. Lea, Wolfgang Lieb, Thomas Lumley, Nicholas G. Martin, Winfried März, Giuseppe Matullo, Mark I. McCarthy, Sarah E. Medland, Tony R. Merriman, Andres Metspalu, Brian F. Meyer, Karen L. Mohlke, Grant W. Montgomery, Dennis Mook-Kanamori, Patricia B. Munroe, Kari E. North, Dale R. Nyholt, Jeffery R. O’connell, Carole Ober, Albertine J. Oldehinkel, Walter Palmas, Colin Palmer, Gerard G. Pasterkamp, Etienne Patin, Craig E. Pennell, Louis Perusse, Patricia A. Peyser, Mario Pirastu, Tinca J.C. Polderman, David J. Porteous, Danielle Posthuma, Bruce M. Psaty, John D. Rioux, Fernando Rivadeneira, Charles Rotimi, Jerome I. Rotter, Igor Rudan, Hester M. Den Ruijter, Dharambir K. Sanghera, Naveed Sattar, Reinhold Schmidt, Matthias B. Schulze, Heribert Schunkert, Robert A. Scott, Alan R. Shuldiner, Xueling Sim, Neil Small, Jennifer A. Smith, Nona Sotoodehnia, E. Shyong Tai, Alexander Teumer, Nicholas J. Timpson, Daniela Toniolo, David Alexandre Tregouet, Tiinamaija Tuomi, Peter Vollenweider, Carol A. Wang, David R. Weir, John B. Whitfield, Cisca Wijmenga, Tien Yin Wong, John Wright, Jingyun Yang, Lei Yu, Babette S. Zemel, Alan B. Zonderman, Markus Perola, Patrik K.E. Magnusson, André G. Uitterlinden, Jaspal S. Kooner, Daniel I. Chasman, Ruth J.F. Loos, Nora Franceschini, Lude Franke, Chris S. Haley, Caroline Hayward, Robin G. Walters, John R.B. Perry, Tōnu Esko, Agnar Helgason, Kari Stefansson, Peter K. Joshi, Michiaki Kubo, James F. Wilson

    Research output: Contribution to journalArticle

    Abstract

    In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

    Original languageEnglish (US)
    Article number4957
    JournalNature Communications
    Volume10
    Issue number1
    DOIs
    StatePublished - Dec 1 2019

    Fingerprint

    phenotype
    Phenotype
    Inbreeding
    social factors
    fertility
    Reproduction
    Fertility
    Siblings
    Parents
    coefficients
    Inbreeding Depression

    ASJC Scopus subject areas

    • Chemistry(all)
    • Biochemistry, Genetics and Molecular Biology(all)
    • Physics and Astronomy(all)

    Cite this

    Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., Gandin, I., ... Wilson, J. F. (2019). Associations of autozygosity with a broad range of human phenotypes. Nature Communications, 10(1), [4957]. https://doi.org/10.1038/s41467-019-12283-6

    Associations of autozygosity with a broad range of human phenotypes. / Clark, David W.; Okada, Yukinori; Moore, Kristjan H.S.; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L.K.; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M.; Baumbach, Clemens; Biino, Ginevra; Bixley, Matthew J.; Brumat, Marco; Chai, Jin Fang; Corre, Tanguy; Cousminer, Diana L.; Dekker, Annelot M.; Eccles, David A.; van Eijk, Kristel R.; Fuchsberger, Christian; Gao, He; Germain, Marine; Gordon, Scott D.; de Haan, Hugoline G.; Harris, Sarah E.; Hofer, Edith; Huerta-Chagoya, Alicia; Igartua, Catherine; Jansen, Iris E.; Jia, Yucheng; Kacprowski, Tim; Karlsson, Torgny; Kleber, Marcus E.; Li, Shengchao Alfred; Li-Gao, Ruifang; Mahajan, Anubha; Matsuda, Koichi; Meidtner, Karina; Meng, Weihua; Montasser, May E.; van der Most, Peter J.; Munz, Matthias; Nutile, Teresa; Palviainen, Teemu; Prasad, Gauri; Prasad, Rashmi B.; Priyanka, Tallapragada Divya Sri; Rizzi, Federica; Salvi, Erika; Sapkota, Bishwa R.; Shriner, Daniel; Skotte, Line; Smart, Melissa C.; Smith, Albert Vernon; van der Spek, Ashley; Spracklen, Cassandra N.; Strawbridge, Rona J.; Tajuddin, Salman M.; Trompet, Stella; Turman, Constance; Verweij, Niek; Viberti, Clara; Wang, Lihua; Warren, Helen R.; Wootton, Robyn E.; Yanek, Lisa R.; Yao, Jie; Yousri, Noha A.; Zhao, Wei; Adeyemo, Adebowale A.; Afaq, Saima; Aguilar-Salinas, Carlos Alberto; Akiyama, Masato; Albert, Matthew L.; Allison, Matthew A.; Alver, Maris; Aung, Tin; Azizi, Fereidoun; Bentley, Amy R.; Boeing, Heiner; Boerwinkle, Eric; Borja, Judith B.; de Borst, Gert J.; Bottinger, Erwin P.; Broer, Linda; Campbell, Harry; Chanock, Stephen; Chee, Miao Li; Chen, Guanjie; Chen, Yii Der I.; Chen, Zhengming; Chiu, Yen Feng; Cocca, Massimiliano; Collins, Francis S.; Concas, Maria Pina; Corley, Janie; Cugliari, Giovanni; van Dam, Rob M.; Damulina, Anna; Daneshpour, Maryam S.; Day, Felix R.; Delgado, Graciela E.; Dhana, Klodian; Doney, Alexander S.F.; Dörr, Marcus; Doumatey, Ayo P.; Dzimiri, Nduna; Ebenesersdóttir, S. Sunna; Elliott, Joshua; Elliott, Paul; Ewert, Ralf; Felix, Janine F.; Fischer, Krista; Freedman, Barry I.; Girotto, Giorgia; Goel, Anuj; Gögele, Martin; Goodarzi, Mark O.; Graff, Mariaelisa; Granot-Hershkovitz, Einat; Grodstein, Francine; Guarrera, Simonetta; Gudbjartsson, Daniel F.; Guity, Kamran; Gunnarsson, Bjarni; Guo, Yu; Hagenaars, Saskia P.; Haiman, Christopher A.; Halevy, Avner; Harris, Tamara B.; Hedayati, Mehdi; van Heel, David A.; Hirata, Makoto; Höfer, Imo; Hsiung, Chao Agnes; Huang, Jinyan; Hung, Yi Jen; Ikram, M. Arfan; Jagadeesan, Anuradha; Jousilahti, Pekka; Kamatani, Yoichiro; Kanai, Masahiro; Kerrison, Nicola D.; Kessler, Thorsten; Khaw, Kay Tee; Khor, Chiea Chuen; de Kleijn, Dominique P.V.; Koh, Woon Puay; Kolcic, Ivana; Kraft, Peter; Krämer, Bernhard K.; Kutalik, Zoltán; Kuusisto, Johanna; Langenberg, Claudia; Launer, Lenore J.; Lawlor, Deborah A.; Lee, I. Te; Lee, Wen Jane; Lerch, Markus M.; Li, Liming; Liu, Jianjun; Loh, Marie; London, Stephanie J.; Loomis, Stephanie; Lu, Yingchang; Luan, Jian’an; Mägi, Reedik; Manichaikul, Ani W.; Manunta, Paolo; Másson, Gísli; Matoba, Nana; Mei, Xue W.; Meisinger, Christa; Meitinger, Thomas; Mezzavilla, Massimo; Milani, Lili; Millwood, Iona Y.; Momozawa, Yukihide; Moore, Amy; Morange, Pierre Emmanuel; Moreno-Macías, Hortensia; Mori, Trevor A.; Morrison, Alanna C.; Muka, Taulant; Murakami, Yoshinori; Murray, Alison D.; de Mutsert, Renée; Mychaleckyj, Josyf C.; Nalls, Mike A.; Nauck, Matthias; Neville, Matt J.; Nolte, Ilja M.; Ong, Ken K.; Orozco, Lorena; Padmanabhan, Sandosh; Pálsson, Gunnar; Pankow, James S.; Pattaro, Cristian; Pattie, Alison; Polasek, Ozren; Poulter, Neil; Pramstaller, Peter P.; Quintana-Murci, Lluis; Räikkönen, Katri; Ralhan, Sarju; Rao, Dabeeru C.; van Rheenen, Wouter; Rich, Stephen S.; Ridker, Paul M.; Rietveld, Cornelius A.; Robino, Antonietta; van Rooij, Frank J.A.; Ruggiero, Daniela; Saba, Yasaman; Sabanayagam, Charumathi; Sabater-Lleal, Maria; Sala, Cinzia Felicita; Salomaa, Veikko; Sandow, Kevin; Schmidt, Helena; Scott, Laura J.; Scott, William R.; Sedaghati-Khayat, Bahareh; Sennblad, Bengt; van Setten, Jessica; Sever, Peter J.; Sheu, Wayne H.H.; Shi, Yuan; Shrestha, Smeeta; Shukla, Sharvari Rahul; Sigurdsson, Jon K.; Sikka, Timo Tonis; Singh, Jai Rup; Smith, Blair H.; Stančáková, Alena; Stanton, Alice; Starr, John M.; Stefansdottir, Lilja; Straker, Leon; Sulem, Patrick; Sveinbjornsson, Gardar; Swertz, Morris A.; Taylor, Adele M.; Taylor, Kent D.; Terzikhan, Natalie; Tham, Yih Chung; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tillander, Annika; Tracy, Russell P.; Tusié-Luna, Teresa; Tzoulaki, Ioanna; Vaccargiu, Simona; Vangipurapu, Jagadish; Veldink, Jan H.; Vitart, Veronique; Völker, Uwe; Vuoksimaa, Eero; Wakil, Salma M.; Waldenberger, Melanie; Wander, Gurpreet S.; Wang, Ya Xing; Wareham, Nicholas J.; Wild, Sarah; Yajnik, Chittaranjan S.; Yuan, Jian Min; Zeng, Lingyao; Zhang, Liang; Zhou, Jie; Amin, Najaf; Asselbergs, Folkert W.; Bakker, Stephan J.L.; Becker, Diane M.; Lehne, Benjamin; Bennett, David A.; van den Berg, Leonard H.; Berndt, Sonja I.; Bharadwaj, Dwaipayan; Bielak, Lawrence F.; Bochud, Murielle; Boehnke, Mike; Bouchard, Claude; Bradfield, Jonathan P.; Brody, Jennifer A.; Campbell, Archie; Carmi, Shai; Caulfield, Mark J.; Cesarini, David; Chambers, John C.; Chandak, Giriraj Ratan; Cheng, Ching Yu; Ciullo, Marina; Cornelis, Marilyn; Cusi, Daniele; Smith, George Davey; Deary, Ian J.; Dorajoo, Rajkumar; van Duijn, Cornelia M.; Ellinghaus, David; Erdmann, Jeanette; Eriksson, Johan G.; Evangelou, Evangelos; Evans, Michele K.; Faul, Jessica D.; Feenstra, Bjarke; Feitosa, Mary; Foisy, Sylvain; Franke, Andre; Friedlander, Yechiel; Gasparini, Paolo; Gieger, Christian; Gonzalez, Clicerio; Goyette, Philippe; Grant, Struan F.A.; Griffiths, Lyn R.; Groop, Leif; Gudnason, Vilmundur; Gyllensten, Ulf; Hakonarson, Hakon; Hamsten, Anders; van der Harst, Pim; Heng, Chew Kiat; Hicks, Andrew A.; Hochner, Hagit; Huikuri, Heikki; Hunt, Steven C.; Jaddoe, Vincent W.V.; De Jager, Philip L.; Johannesson, Magnus; Johansson, Åsa; Jonas, Jost B.; Jukema, J. Wouter; Junttila, Juhani; Kaprio, Jaakko; Kardia, Sharon L.R.; Karpe, Fredrik; Kumari, Meena; Laakso, Markku; van der Laan, Sander W.; Lahti, Jari; Laudes, Matthias; Lea, Rodney A.; Lieb, Wolfgang; Lumley, Thomas; Martin, Nicholas G.; März, Winfried; Matullo, Giuseppe; McCarthy, Mark I.; Medland, Sarah E.; Merriman, Tony R.; Metspalu, Andres; Meyer, Brian F.; Mohlke, Karen L.; Montgomery, Grant W.; Mook-Kanamori, Dennis; Munroe, Patricia B.; North, Kari E.; Nyholt, Dale R.; O’connell, Jeffery R.; Ober, Carole; Oldehinkel, Albertine J.; Palmas, Walter; Palmer, Colin; Pasterkamp, Gerard G.; Patin, Etienne; Pennell, Craig E.; Perusse, Louis; Peyser, Patricia A.; Pirastu, Mario; Polderman, Tinca J.C.; Porteous, David J.; Posthuma, Danielle; Psaty, Bruce M.; Rioux, John D.; Rivadeneira, Fernando; Rotimi, Charles; Rotter, Jerome I.; Rudan, Igor; Den Ruijter, Hester M.; Sanghera, Dharambir K.; Sattar, Naveed; Schmidt, Reinhold; Schulze, Matthias B.; Schunkert, Heribert; Scott, Robert A.; Shuldiner, Alan R.; Sim, Xueling; Small, Neil; Smith, Jennifer A.; Sotoodehnia, Nona; Tai, E. Shyong; Teumer, Alexander; Timpson, Nicholas J.; Toniolo, Daniela; Tregouet, David Alexandre; Tuomi, Tiinamaija; Vollenweider, Peter; Wang, Carol A.; Weir, David R.; Whitfield, John B.; Wijmenga, Cisca; Wong, Tien Yin; Wright, John; Yang, Jingyun; Yu, Lei; Zemel, Babette S.; Zonderman, Alan B.; Perola, Markus; Magnusson, Patrik K.E.; Uitterlinden, André G.; Kooner, Jaspal S.; Chasman, Daniel I.; Loos, Ruth J.F.; Franceschini, Nora; Franke, Lude; Haley, Chris S.; Hayward, Caroline; Walters, Robin G.; Perry, John R.B.; Esko, Tōnu; Helgason, Agnar; Stefansson, Kari; Joshi, Peter K.; Kubo, Michiaki; Wilson, James F.

    In: Nature Communications, Vol. 10, No. 1, 4957, 01.12.2019.

    Research output: Contribution to journalArticle

    Clark, DW, Okada, Y, Moore, KHS, Mason, D, Pirastu, N, Gandin, I, Mattsson, H, Barnes, CLK, Lin, K, Zhao, JH, Deelen, P, Rohde, R, Schurmann, C, Guo, X, Giulianini, F, Zhang, W, Medina-Gomez, C, Karlsson, R, Bao, Y, Bartz, TM, Baumbach, C, Biino, G, Bixley, MJ, Brumat, M, Chai, JF, Corre, T, Cousminer, DL, Dekker, AM, Eccles, DA, van Eijk, KR, Fuchsberger, C, Gao, H, Germain, M, Gordon, SD, de Haan, HG, Harris, SE, Hofer, E, Huerta-Chagoya, A, Igartua, C, Jansen, IE, Jia, Y, Kacprowski, T, Karlsson, T, Kleber, ME, Li, SA, Li-Gao, R, Mahajan, A, Matsuda, K, Meidtner, K, Meng, W, Montasser, ME, van der Most, PJ, Munz, M, Nutile, T, Palviainen, T, Prasad, G, Prasad, RB, Priyanka, TDS, Rizzi, F, Salvi, E, Sapkota, BR, Shriner, D, Skotte, L, Smart, MC, Smith, AV, van der Spek, A, Spracklen, CN, Strawbridge, RJ, Tajuddin, SM, Trompet, S, Turman, C, Verweij, N, Viberti, C, Wang, L, Warren, HR, Wootton, RE, Yanek, LR, Yao, J, Yousri, NA, Zhao, W, Adeyemo, AA, Afaq, S, Aguilar-Salinas, CA, Akiyama, M, Albert, ML, Allison, MA, Alver, M, Aung, T, Azizi, F, Bentley, AR, Boeing, H, Boerwinkle, E, Borja, JB, de Borst, GJ, Bottinger, EP, Broer, L, Campbell, H, Chanock, S, Chee, ML, Chen, G, Chen, YDI, Chen, Z, Chiu, YF, Cocca, M, Collins, FS, Concas, MP, Corley, J, Cugliari, G, van Dam, RM, Damulina, A, Daneshpour, MS, Day, FR, Delgado, GE, Dhana, K, Doney, ASF, Dörr, M, Doumatey, AP, Dzimiri, N, Ebenesersdóttir, SS, Elliott, J, Elliott, P, Ewert, R, Felix, JF, Fischer, K, Freedman, BI, Girotto, G, Goel, A, Gögele, M, Goodarzi, MO, Graff, M, Granot-Hershkovitz, E, Grodstein, F, Guarrera, S, Gudbjartsson, DF, Guity, K, Gunnarsson, B, Guo, Y, Hagenaars, SP, Haiman, CA, Halevy, A, Harris, TB, Hedayati, M, van Heel, DA, Hirata, M, Höfer, I, Hsiung, CA, Huang, J, Hung, YJ, Ikram, MA, Jagadeesan, A, Jousilahti, P, Kamatani, Y, Kanai, M, Kerrison, ND, Kessler, T, Khaw, KT, Khor, CC, de Kleijn, DPV, Koh, WP, Kolcic, I, Kraft, P, Krämer, BK, Kutalik, Z, Kuusisto, J, Langenberg, C, Launer, LJ, Lawlor, DA, Lee, IT, Lee, WJ, Lerch, MM, Li, L, Liu, J, Loh, M, London, SJ, Loomis, S, Lu, Y, Luan, J, Mägi, R, Manichaikul, AW, Manunta, P, Másson, G, Matoba, N, Mei, XW, Meisinger, C, Meitinger, T, Mezzavilla, M, Milani, L, Millwood, IY, Momozawa, Y, Moore, A, Morange, PE, Moreno-Macías, H, Mori, TA, Morrison, AC, Muka, T, Murakami, Y, Murray, AD, de Mutsert, R, Mychaleckyj, JC, Nalls, MA, Nauck, M, Neville, MJ, Nolte, IM, Ong, KK, Orozco, L, Padmanabhan, S, Pálsson, G, Pankow, JS, Pattaro, C, Pattie, A, Polasek, O, Poulter, N, Pramstaller, PP, Quintana-Murci, L, Räikkönen, K, Ralhan, S, Rao, DC, van Rheenen, W, Rich, SS, Ridker, PM, Rietveld, CA, Robino, A, van Rooij, FJA, Ruggiero, D, Saba, Y, Sabanayagam, C, Sabater-Lleal, M, Sala, CF, Salomaa, V, Sandow, K, Schmidt, H, Scott, LJ, Scott, WR, Sedaghati-Khayat, B, Sennblad, B, van Setten, J, Sever, PJ, Sheu, WHH, Shi, Y, Shrestha, S, Shukla, SR, Sigurdsson, JK, Sikka, TT, Singh, JR, Smith, BH, Stančáková, A, Stanton, A, Starr, JM, Stefansdottir, L, Straker, L, Sulem, P, Sveinbjornsson, G, Swertz, MA, Taylor, AM, Taylor, KD, Terzikhan, N, Tham, YC, Thorleifsson, G, Thorsteinsdottir, U, Tillander, A, Tracy, RP, Tusié-Luna, T, Tzoulaki, I, Vaccargiu, S, Vangipurapu, J, Veldink, JH, Vitart, V, Völker, U, Vuoksimaa, E, Wakil, SM, Waldenberger, M, Wander, GS, Wang, YX, Wareham, NJ, Wild, S, Yajnik, CS, Yuan, JM, Zeng, L, Zhang, L, Zhou, J, Amin, N, Asselbergs, FW, Bakker, SJL, Becker, DM, Lehne, B, Bennett, DA, van den Berg, LH, Berndt, SI, Bharadwaj, D, Bielak, LF, Bochud, M, Boehnke, M, Bouchard, C, Bradfield, JP, Brody, JA, Campbell, A, Carmi, S, Caulfield, MJ, Cesarini, D, Chambers, JC, Chandak, GR, Cheng, CY, Ciullo, M, Cornelis, M, Cusi, D, Smith, GD, Deary, IJ, Dorajoo, R, van Duijn, CM, Ellinghaus, D, Erdmann, J, Eriksson, JG, Evangelou, E, Evans, MK, Faul, JD, Feenstra, B, Feitosa, M, Foisy, S, Franke, A, Friedlander, Y, Gasparini, P, Gieger, C, Gonzalez, C, Goyette, P, Grant, SFA, Griffiths, LR, Groop, L, Gudnason, V, Gyllensten, U, Hakonarson, H, Hamsten, A, van der Harst, P, Heng, CK, Hicks, AA, Hochner, H, Huikuri, H, Hunt, SC, Jaddoe, VWV, De Jager, PL, Johannesson, M, Johansson, Å, Jonas, JB, Jukema, JW, Junttila, J, Kaprio, J, Kardia, SLR, Karpe, F, Kumari, M, Laakso, M, van der Laan, SW, Lahti, J, Laudes, M, Lea, RA, Lieb, W, Lumley, T, Martin, NG, März, W, Matullo, G, McCarthy, MI, Medland, SE, Merriman, TR, Metspalu, A, Meyer, BF, Mohlke, KL, Montgomery, GW, Mook-Kanamori, D, Munroe, PB, North, KE, Nyholt, DR, O’connell, JR, Ober, C, Oldehinkel, AJ, Palmas, W, Palmer, C, Pasterkamp, GG, Patin, E, Pennell, CE, Perusse, L, Peyser, PA, Pirastu, M, Polderman, TJC, Porteous, DJ, Posthuma, D, Psaty, BM, Rioux, JD, Rivadeneira, F, Rotimi, C, Rotter, JI, Rudan, I, Den Ruijter, HM, Sanghera, DK, Sattar, N, Schmidt, R, Schulze, MB, Schunkert, H, Scott, RA, Shuldiner, AR, Sim, X, Small, N, Smith, JA, Sotoodehnia, N, Tai, ES, Teumer, A, Timpson, NJ, Toniolo, D, Tregouet, DA, Tuomi, T, Vollenweider, P, Wang, CA, Weir, DR, Whitfield, JB, Wijmenga, C, Wong, TY, Wright, J, Yang, J, Yu, L, Zemel, BS, Zonderman, AB, Perola, M, Magnusson, PKE, Uitterlinden, AG, Kooner, JS, Chasman, DI, Loos, RJF, Franceschini, N, Franke, L, Haley, CS, Hayward, C, Walters, RG, Perry, JRB, Esko, T, Helgason, A, Stefansson, K, Joshi, PK, Kubo, M & Wilson, JF 2019, 'Associations of autozygosity with a broad range of human phenotypes', Nature Communications, vol. 10, no. 1, 4957. https://doi.org/10.1038/s41467-019-12283-6
    Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I et al. Associations of autozygosity with a broad range of human phenotypes. Nature Communications. 2019 Dec 1;10(1). 4957. https://doi.org/10.1038/s41467-019-12283-6
    Clark, David W. ; Okada, Yukinori ; Moore, Kristjan H.S. ; Mason, Dan ; Pirastu, Nicola ; Gandin, Ilaria ; Mattsson, Hannele ; Barnes, Catriona L.K. ; Lin, Kuang ; Zhao, Jing Hua ; Deelen, Patrick ; Rohde, Rebecca ; Schurmann, Claudia ; Guo, Xiuqing ; Giulianini, Franco ; Zhang, Weihua ; Medina-Gomez, Carolina ; Karlsson, Robert ; Bao, Yanchun ; Bartz, Traci M. ; Baumbach, Clemens ; Biino, Ginevra ; Bixley, Matthew J. ; Brumat, Marco ; Chai, Jin Fang ; Corre, Tanguy ; Cousminer, Diana L. ; Dekker, Annelot M. ; Eccles, David A. ; van Eijk, Kristel R. ; Fuchsberger, Christian ; Gao, He ; Germain, Marine ; Gordon, Scott D. ; de Haan, Hugoline G. ; Harris, Sarah E. ; Hofer, Edith ; Huerta-Chagoya, Alicia ; Igartua, Catherine ; Jansen, Iris E. ; Jia, Yucheng ; Kacprowski, Tim ; Karlsson, Torgny ; Kleber, Marcus E. ; Li, Shengchao Alfred ; Li-Gao, Ruifang ; Mahajan, Anubha ; Matsuda, Koichi ; Meidtner, Karina ; Meng, Weihua ; Montasser, May E. ; van der Most, Peter J. ; Munz, Matthias ; Nutile, Teresa ; Palviainen, Teemu ; Prasad, Gauri ; Prasad, Rashmi B. ; Priyanka, Tallapragada Divya Sri ; Rizzi, Federica ; Salvi, Erika ; Sapkota, Bishwa R. ; Shriner, Daniel ; Skotte, Line ; Smart, Melissa C. ; Smith, Albert Vernon ; van der Spek, Ashley ; Spracklen, Cassandra N. ; Strawbridge, Rona J. ; Tajuddin, Salman M. ; Trompet, Stella ; Turman, Constance ; Verweij, Niek ; Viberti, Clara ; Wang, Lihua ; Warren, Helen R. ; Wootton, Robyn E. ; Yanek, Lisa R. ; Yao, Jie ; Yousri, Noha A. ; Zhao, Wei ; Adeyemo, Adebowale A. ; Afaq, Saima ; Aguilar-Salinas, Carlos Alberto ; Akiyama, Masato ; Albert, Matthew L. ; Allison, Matthew A. ; Alver, Maris ; Aung, Tin ; Azizi, Fereidoun ; Bentley, Amy R. ; Boeing, Heiner ; Boerwinkle, Eric ; Borja, Judith B. ; de Borst, Gert J. ; Bottinger, Erwin P. ; Broer, Linda ; Campbell, Harry ; Chanock, Stephen ; Chee, Miao Li ; Chen, Guanjie ; Chen, Yii Der I. ; Chen, Zhengming ; Chiu, Yen Feng ; Cocca, Massimiliano ; Collins, Francis S. ; Concas, Maria Pina ; Corley, Janie ; Cugliari, Giovanni ; van Dam, Rob M. ; Damulina, Anna ; Daneshpour, Maryam S. ; Day, Felix R. ; Delgado, Graciela E. ; Dhana, Klodian ; Doney, Alexander S.F. ; Dörr, Marcus ; Doumatey, Ayo P. ; Dzimiri, Nduna ; Ebenesersdóttir, S. Sunna ; Elliott, Joshua ; Elliott, Paul ; Ewert, Ralf ; Felix, Janine F. ; Fischer, Krista ; Freedman, Barry I. ; Girotto, Giorgia ; Goel, Anuj ; Gögele, Martin ; Goodarzi, Mark O. ; Graff, Mariaelisa ; Granot-Hershkovitz, Einat ; Grodstein, Francine ; Guarrera, Simonetta ; Gudbjartsson, Daniel F. ; Guity, Kamran ; Gunnarsson, Bjarni ; Guo, Yu ; Hagenaars, Saskia P. ; Haiman, Christopher A. ; Halevy, Avner ; Harris, Tamara B. ; Hedayati, Mehdi ; van Heel, David A. ; Hirata, Makoto ; Höfer, Imo ; Hsiung, Chao Agnes ; Huang, Jinyan ; Hung, Yi Jen ; Ikram, M. Arfan ; Jagadeesan, Anuradha ; Jousilahti, Pekka ; Kamatani, Yoichiro ; Kanai, Masahiro ; Kerrison, Nicola D. ; Kessler, Thorsten ; Khaw, Kay Tee ; Khor, Chiea Chuen ; de Kleijn, Dominique P.V. ; Koh, Woon Puay ; Kolcic, Ivana ; Kraft, Peter ; Krämer, Bernhard K. ; Kutalik, Zoltán ; Kuusisto, Johanna ; Langenberg, Claudia ; Launer, Lenore J. ; Lawlor, Deborah A. ; Lee, I. Te ; Lee, Wen Jane ; Lerch, Markus M. ; Li, Liming ; Liu, Jianjun ; Loh, Marie ; London, Stephanie J. ; Loomis, Stephanie ; Lu, Yingchang ; Luan, Jian’an ; Mägi, Reedik ; Manichaikul, Ani W. ; Manunta, Paolo ; Másson, Gísli ; Matoba, Nana ; Mei, Xue W. ; Meisinger, Christa ; Meitinger, Thomas ; Mezzavilla, Massimo ; Milani, Lili ; Millwood, Iona Y. ; Momozawa, Yukihide ; Moore, Amy ; Morange, Pierre Emmanuel ; Moreno-Macías, Hortensia ; Mori, Trevor A. ; Morrison, Alanna C. ; Muka, Taulant ; Murakami, Yoshinori ; Murray, Alison D. ; de Mutsert, Renée ; Mychaleckyj, Josyf C. ; Nalls, Mike A. ; Nauck, Matthias ; Neville, Matt J. ; Nolte, Ilja M. ; Ong, Ken K. ; Orozco, Lorena ; Padmanabhan, Sandosh ; Pálsson, Gunnar ; Pankow, James S. ; Pattaro, Cristian ; Pattie, Alison ; Polasek, Ozren ; Poulter, Neil ; Pramstaller, Peter P. ; Quintana-Murci, Lluis ; Räikkönen, Katri ; Ralhan, Sarju ; Rao, Dabeeru C. ; van Rheenen, Wouter ; Rich, Stephen S. ; Ridker, Paul M. ; Rietveld, Cornelius A. ; Robino, Antonietta ; van Rooij, Frank J.A. ; Ruggiero, Daniela ; Saba, Yasaman ; Sabanayagam, Charumathi ; Sabater-Lleal, Maria ; Sala, Cinzia Felicita ; Salomaa, Veikko ; Sandow, Kevin ; Schmidt, Helena ; Scott, Laura J. ; Scott, William R. ; Sedaghati-Khayat, Bahareh ; Sennblad, Bengt ; van Setten, Jessica ; Sever, Peter J. ; Sheu, Wayne H.H. ; Shi, Yuan ; Shrestha, Smeeta ; Shukla, Sharvari Rahul ; Sigurdsson, Jon K. ; Sikka, Timo Tonis ; Singh, Jai Rup ; Smith, Blair H. ; Stančáková, Alena ; Stanton, Alice ; Starr, John M. ; Stefansdottir, Lilja ; Straker, Leon ; Sulem, Patrick ; Sveinbjornsson, Gardar ; Swertz, Morris A. ; Taylor, Adele M. ; Taylor, Kent D. ; Terzikhan, Natalie ; Tham, Yih Chung ; Thorleifsson, Gudmar ; Thorsteinsdottir, Unnur ; Tillander, Annika ; Tracy, Russell P. ; Tusié-Luna, Teresa ; Tzoulaki, Ioanna ; Vaccargiu, Simona ; Vangipurapu, Jagadish ; Veldink, Jan H. ; Vitart, Veronique ; Völker, Uwe ; Vuoksimaa, Eero ; Wakil, Salma M. ; Waldenberger, Melanie ; Wander, Gurpreet S. ; Wang, Ya Xing ; Wareham, Nicholas J. ; Wild, Sarah ; Yajnik, Chittaranjan S. ; Yuan, Jian Min ; Zeng, Lingyao ; Zhang, Liang ; Zhou, Jie ; Amin, Najaf ; Asselbergs, Folkert W. ; Bakker, Stephan J.L. ; Becker, Diane M. ; Lehne, Benjamin ; Bennett, David A. ; van den Berg, Leonard H. ; Berndt, Sonja I. ; Bharadwaj, Dwaipayan ; Bielak, Lawrence F. ; Bochud, Murielle ; Boehnke, Mike ; Bouchard, Claude ; Bradfield, Jonathan P. ; Brody, Jennifer A. ; Campbell, Archie ; Carmi, Shai ; Caulfield, Mark J. ; Cesarini, David ; Chambers, John C. ; Chandak, Giriraj Ratan ; Cheng, Ching Yu ; Ciullo, Marina ; Cornelis, Marilyn ; Cusi, Daniele ; Smith, George Davey ; Deary, Ian J. ; Dorajoo, Rajkumar ; van Duijn, Cornelia M. ; Ellinghaus, David ; Erdmann, Jeanette ; Eriksson, Johan G. ; Evangelou, Evangelos ; Evans, Michele K. ; Faul, Jessica D. ; Feenstra, Bjarke ; Feitosa, Mary ; Foisy, Sylvain ; Franke, Andre ; Friedlander, Yechiel ; Gasparini, Paolo ; Gieger, Christian ; Gonzalez, Clicerio ; Goyette, Philippe ; Grant, Struan F.A. ; Griffiths, Lyn R. ; Groop, Leif ; Gudnason, Vilmundur ; Gyllensten, Ulf ; Hakonarson, Hakon ; Hamsten, Anders ; van der Harst, Pim ; Heng, Chew Kiat ; Hicks, Andrew A. ; Hochner, Hagit ; Huikuri, Heikki ; Hunt, Steven C. ; Jaddoe, Vincent W.V. ; De Jager, Philip L. ; Johannesson, Magnus ; Johansson, Åsa ; Jonas, Jost B. ; Jukema, J. Wouter ; Junttila, Juhani ; Kaprio, Jaakko ; Kardia, Sharon L.R. ; Karpe, Fredrik ; Kumari, Meena ; Laakso, Markku ; van der Laan, Sander W. ; Lahti, Jari ; Laudes, Matthias ; Lea, Rodney A. ; Lieb, Wolfgang ; Lumley, Thomas ; Martin, Nicholas G. ; März, Winfried ; Matullo, Giuseppe ; McCarthy, Mark I. ; Medland, Sarah E. ; Merriman, Tony R. ; Metspalu, Andres ; Meyer, Brian F. ; Mohlke, Karen L. ; Montgomery, Grant W. ; Mook-Kanamori, Dennis ; Munroe, Patricia B. ; North, Kari E. ; Nyholt, Dale R. ; O’connell, Jeffery R. ; Ober, Carole ; Oldehinkel, Albertine J. ; Palmas, Walter ; Palmer, Colin ; Pasterkamp, Gerard G. ; Patin, Etienne ; Pennell, Craig E. ; Perusse, Louis ; Peyser, Patricia A. ; Pirastu, Mario ; Polderman, Tinca J.C. ; Porteous, David J. ; Posthuma, Danielle ; Psaty, Bruce M. ; Rioux, John D. ; Rivadeneira, Fernando ; Rotimi, Charles ; Rotter, Jerome I. ; Rudan, Igor ; Den Ruijter, Hester M. ; Sanghera, Dharambir K. ; Sattar, Naveed ; Schmidt, Reinhold ; Schulze, Matthias B. ; Schunkert, Heribert ; Scott, Robert A. ; Shuldiner, Alan R. ; Sim, Xueling ; Small, Neil ; Smith, Jennifer A. ; Sotoodehnia, Nona ; Tai, E. Shyong ; Teumer, Alexander ; Timpson, Nicholas J. ; Toniolo, Daniela ; Tregouet, David Alexandre ; Tuomi, Tiinamaija ; Vollenweider, Peter ; Wang, Carol A. ; Weir, David R. ; Whitfield, John B. ; Wijmenga, Cisca ; Wong, Tien Yin ; Wright, John ; Yang, Jingyun ; Yu, Lei ; Zemel, Babette S. ; Zonderman, Alan B. ; Perola, Markus ; Magnusson, Patrik K.E. ; Uitterlinden, André G. ; Kooner, Jaspal S. ; Chasman, Daniel I. ; Loos, Ruth J.F. ; Franceschini, Nora ; Franke, Lude ; Haley, Chris S. ; Hayward, Caroline ; Walters, Robin G. ; Perry, John R.B. ; Esko, Tōnu ; Helgason, Agnar ; Stefansson, Kari ; Joshi, Peter K. ; Kubo, Michiaki ; Wilson, James F. / Associations of autozygosity with a broad range of human phenotypes. In: Nature Communications. 2019 ; Vol. 10, No. 1.
    @article{8da1c43decf94f45b5e5a60b3685d5d7,
    title = "Associations of autozygosity with a broad range of human phenotypes",
    abstract = "In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55{\%} decrease [95{\%} CI 44–66{\%}] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.",
    author = "Clark, {David W.} and Yukinori Okada and Moore, {Kristjan H.S.} and Dan Mason and Nicola Pirastu and Ilaria Gandin and Hannele Mattsson and Barnes, {Catriona L.K.} and Kuang Lin and Zhao, {Jing Hua} and Patrick Deelen and Rebecca Rohde and Claudia Schurmann and Xiuqing Guo and Franco Giulianini and Weihua Zhang and Carolina Medina-Gomez and Robert Karlsson and Yanchun Bao and Bartz, {Traci M.} and Clemens Baumbach and Ginevra Biino and Bixley, {Matthew J.} and Marco Brumat and Chai, {Jin Fang} and Tanguy Corre and Cousminer, {Diana L.} and Dekker, {Annelot M.} and Eccles, {David A.} and {van Eijk}, {Kristel R.} and Christian Fuchsberger and He Gao and Marine Germain and Gordon, {Scott D.} and {de Haan}, {Hugoline G.} and Harris, {Sarah E.} and Edith Hofer and Alicia Huerta-Chagoya and Catherine Igartua and Jansen, {Iris E.} and Yucheng Jia and Tim Kacprowski and Torgny Karlsson and Kleber, {Marcus E.} and Li, {Shengchao Alfred} and Ruifang Li-Gao and Anubha Mahajan and Koichi Matsuda and Karina Meidtner and Weihua Meng and Montasser, {May E.} and {van der Most}, {Peter J.} and Matthias Munz and Teresa Nutile and Teemu Palviainen and Gauri Prasad and Prasad, {Rashmi B.} and Priyanka, {Tallapragada Divya Sri} and Federica Rizzi and Erika Salvi and Sapkota, {Bishwa R.} and Daniel Shriner and Line Skotte and Smart, {Melissa C.} and Smith, {Albert Vernon} and {van der Spek}, Ashley and Spracklen, {Cassandra N.} and Strawbridge, {Rona J.} and Tajuddin, {Salman M.} and Stella Trompet and Constance Turman and Niek Verweij and Clara Viberti and Lihua Wang and Warren, {Helen R.} and Wootton, {Robyn E.} and Yanek, {Lisa R.} and Jie Yao and Yousri, {Noha A.} and Wei Zhao and Adeyemo, {Adebowale A.} and Saima Afaq and Aguilar-Salinas, {Carlos Alberto} and Masato Akiyama and Albert, {Matthew L.} and Allison, {Matthew A.} and Maris Alver and Tin Aung and Fereidoun Azizi and Bentley, {Amy R.} and Heiner Boeing and Eric Boerwinkle and Borja, {Judith B.} and {de Borst}, {Gert J.} and Bottinger, {Erwin P.} and Linda Broer and Harry Campbell and Stephen Chanock and Chee, {Miao Li} and Guanjie Chen and Chen, {Yii Der I.} and Zhengming Chen and Chiu, {Yen Feng} and Massimiliano Cocca and Collins, {Francis S.} and Concas, {Maria Pina} and Janie Corley and Giovanni Cugliari and {van Dam}, {Rob M.} and Anna Damulina and Daneshpour, {Maryam S.} and Day, {Felix R.} and Delgado, {Graciela E.} and Klodian Dhana and Doney, {Alexander S.F.} and Marcus D{\"o}rr and Doumatey, {Ayo P.} and Nduna Dzimiri and Ebenesersd{\'o}ttir, {S. Sunna} and Joshua Elliott and Paul Elliott and Ralf Ewert and Felix, {Janine F.} and Krista Fischer and Freedman, {Barry I.} and Giorgia Girotto and Anuj Goel and Martin G{\"o}gele and Goodarzi, {Mark O.} and Mariaelisa Graff and Einat Granot-Hershkovitz and Francine Grodstein and Simonetta Guarrera and Gudbjartsson, {Daniel F.} and Kamran Guity and Bjarni Gunnarsson and Yu Guo and Hagenaars, {Saskia P.} and Haiman, {Christopher A.} and Avner Halevy and Harris, {Tamara B.} and Mehdi Hedayati and {van Heel}, {David A.} and Makoto Hirata and Imo H{\"o}fer and Hsiung, {Chao Agnes} and Jinyan Huang and Hung, {Yi Jen} and Ikram, {M. Arfan} and Anuradha Jagadeesan and Pekka Jousilahti and Yoichiro Kamatani and Masahiro Kanai and Kerrison, {Nicola D.} and Thorsten Kessler and Khaw, {Kay Tee} and Khor, {Chiea Chuen} and {de Kleijn}, {Dominique P.V.} and Koh, {Woon Puay} and Ivana Kolcic and Peter Kraft and Kr{\"a}mer, {Bernhard K.} and Zolt{\'a}n Kutalik and Johanna Kuusisto and Claudia Langenberg and Launer, {Lenore J.} and Lawlor, {Deborah A.} and Lee, {I. Te} and Lee, {Wen Jane} and Lerch, {Markus M.} and Liming Li and Jianjun Liu and Marie Loh and London, {Stephanie J.} and Stephanie Loomis and Yingchang Lu and Jian’an Luan and Reedik M{\"a}gi and Manichaikul, {Ani W.} and Paolo Manunta and G{\'i}sli M{\'a}sson and Nana Matoba and Mei, {Xue W.} and Christa Meisinger and Thomas Meitinger and Massimo Mezzavilla and Lili Milani and Millwood, {Iona Y.} and Yukihide Momozawa and Amy Moore and Morange, {Pierre Emmanuel} and Hortensia Moreno-Mac{\'i}as and Mori, {Trevor A.} and Morrison, {Alanna C.} and Taulant Muka and Yoshinori Murakami and Murray, {Alison D.} and {de Mutsert}, Ren{\'e}e and Mychaleckyj, {Josyf C.} and Nalls, {Mike A.} and Matthias Nauck and Neville, {Matt J.} and Nolte, {Ilja M.} and Ong, {Ken K.} and Lorena Orozco and Sandosh Padmanabhan and Gunnar P{\'a}lsson and Pankow, {James S.} and Cristian Pattaro and Alison Pattie and Ozren Polasek and Neil Poulter and Pramstaller, {Peter P.} and Lluis Quintana-Murci and Katri R{\"a}ikk{\"o}nen and Sarju Ralhan and Rao, {Dabeeru C.} and {van Rheenen}, Wouter and Rich, {Stephen S.} and Ridker, {Paul M.} and Rietveld, {Cornelius A.} and Antonietta Robino and {van Rooij}, {Frank J.A.} and Daniela Ruggiero and Yasaman Saba and Charumathi Sabanayagam and Maria Sabater-Lleal and Sala, {Cinzia Felicita} and Veikko Salomaa and Kevin Sandow and Helena Schmidt and Scott, {Laura J.} and Scott, {William R.} and Bahareh Sedaghati-Khayat and Bengt Sennblad and {van Setten}, Jessica and Sever, {Peter J.} and Sheu, {Wayne H.H.} and Yuan Shi and Smeeta Shrestha and Shukla, {Sharvari Rahul} and Sigurdsson, {Jon K.} and Sikka, {Timo Tonis} and Singh, {Jai Rup} and Smith, {Blair H.} and Alena Stanč{\'a}kov{\'a} and Alice Stanton and Starr, {John M.} and Lilja Stefansdottir and Leon Straker and Patrick Sulem and Gardar Sveinbjornsson and Swertz, {Morris A.} and Taylor, {Adele M.} and Taylor, {Kent D.} and Natalie Terzikhan and Tham, {Yih Chung} and Gudmar Thorleifsson and Unnur Thorsteinsdottir and Annika Tillander and Tracy, {Russell P.} and Teresa Tusi{\'e}-Luna and Ioanna Tzoulaki and Simona Vaccargiu and Jagadish Vangipurapu and Veldink, {Jan H.} and Veronique Vitart and Uwe V{\"o}lker and Eero Vuoksimaa and Wakil, {Salma M.} and Melanie Waldenberger and Wander, {Gurpreet S.} and Wang, {Ya Xing} and Wareham, {Nicholas J.} and Sarah Wild and Yajnik, {Chittaranjan S.} and Yuan, {Jian Min} and Lingyao Zeng and Liang Zhang and Jie Zhou and Najaf Amin and Asselbergs, {Folkert W.} and Bakker, {Stephan J.L.} and Becker, {Diane M.} and Benjamin Lehne and Bennett, {David A.} and {van den Berg}, {Leonard H.} and Berndt, {Sonja I.} and Dwaipayan Bharadwaj and Bielak, {Lawrence F.} and Murielle Bochud and Mike Boehnke and Claude Bouchard and Bradfield, {Jonathan P.} and Brody, {Jennifer A.} and Archie Campbell and Shai Carmi and Caulfield, {Mark J.} and David Cesarini and Chambers, {John C.} and Chandak, {Giriraj Ratan} and Cheng, {Ching Yu} and Marina Ciullo and Marilyn Cornelis and Daniele Cusi and Smith, {George Davey} and Deary, {Ian J.} and Rajkumar Dorajoo and {van Duijn}, {Cornelia M.} and David Ellinghaus and Jeanette Erdmann and Eriksson, {Johan G.} and Evangelos Evangelou and Evans, {Michele K.} and Faul, {Jessica D.} and Bjarke Feenstra and Mary Feitosa and Sylvain Foisy and Andre Franke and Yechiel Friedlander and Paolo Gasparini and Christian Gieger and Clicerio Gonzalez and Philippe Goyette and Grant, {Struan F.A.} and Griffiths, {Lyn R.} and Leif Groop and Vilmundur Gudnason and Ulf Gyllensten and Hakon Hakonarson and Anders Hamsten and {van der Harst}, Pim and Heng, {Chew Kiat} and Hicks, {Andrew A.} and Hagit Hochner and Heikki Huikuri and Hunt, {Steven C.} and Jaddoe, {Vincent W.V.} and {De Jager}, {Philip L.} and Magnus Johannesson and {\AA}sa Johansson and Jonas, {Jost B.} and Jukema, {J. Wouter} and Juhani Junttila and Jaakko Kaprio and Kardia, {Sharon L.R.} and Fredrik Karpe and Meena Kumari and Markku Laakso and {van der Laan}, {Sander W.} and Jari Lahti and Matthias Laudes and Lea, {Rodney A.} and Wolfgang Lieb and Thomas Lumley and Martin, {Nicholas G.} and Winfried M{\"a}rz and Giuseppe Matullo and McCarthy, {Mark I.} and Medland, {Sarah E.} and Merriman, {Tony R.} and Andres Metspalu and Meyer, {Brian F.} and Mohlke, {Karen L.} and Montgomery, {Grant W.} and Dennis Mook-Kanamori and Munroe, {Patricia B.} and North, {Kari E.} and Nyholt, {Dale R.} and O’connell, {Jeffery R.} and Carole Ober and Oldehinkel, {Albertine J.} and Walter Palmas and Colin Palmer and Pasterkamp, {Gerard G.} and Etienne Patin and Pennell, {Craig E.} and Louis Perusse and Peyser, {Patricia A.} and Mario Pirastu and Polderman, {Tinca J.C.} and Porteous, {David J.} and Danielle Posthuma and Psaty, {Bruce M.} and Rioux, {John D.} and Fernando Rivadeneira and Charles Rotimi and Rotter, {Jerome I.} and Igor Rudan and {Den Ruijter}, {Hester M.} and Sanghera, {Dharambir K.} and Naveed Sattar and Reinhold Schmidt and Schulze, {Matthias B.} and Heribert Schunkert and Scott, {Robert A.} and Shuldiner, {Alan R.} and Xueling Sim and Neil Small and Smith, {Jennifer A.} and Nona Sotoodehnia and Tai, {E. Shyong} and Alexander Teumer and Timpson, {Nicholas J.} and Daniela Toniolo and Tregouet, {David Alexandre} and Tiinamaija Tuomi and Peter Vollenweider and Wang, {Carol A.} and Weir, {David R.} and Whitfield, {John B.} and Cisca Wijmenga and Wong, {Tien Yin} and John Wright and Jingyun Yang and Lei Yu and Zemel, {Babette S.} and Zonderman, {Alan B.} and Markus Perola and Magnusson, {Patrik K.E.} and Uitterlinden, {Andr{\'e} G.} and Kooner, {Jaspal S.} and Chasman, {Daniel I.} and Loos, {Ruth J.F.} and Nora Franceschini and Lude Franke and Haley, {Chris S.} and Caroline Hayward and Walters, {Robin G.} and Perry, {John R.B.} and Tōnu Esko and Agnar Helgason and Kari Stefansson and Joshi, {Peter K.} and Michiaki Kubo and Wilson, {James F.}",
    year = "2019",
    month = "12",
    day = "1",
    doi = "10.1038/s41467-019-12283-6",
    language = "English (US)",
    volume = "10",
    journal = "Nature Communications",
    issn = "2041-1723",
    publisher = "Nature Publishing Group",
    number = "1",

    }

    TY - JOUR

    T1 - Associations of autozygosity with a broad range of human phenotypes

    AU - Clark, David W.

    AU - Okada, Yukinori

    AU - Moore, Kristjan H.S.

    AU - Mason, Dan

    AU - Pirastu, Nicola

    AU - Gandin, Ilaria

    AU - Mattsson, Hannele

    AU - Barnes, Catriona L.K.

    AU - Lin, Kuang

    AU - Zhao, Jing Hua

    AU - Deelen, Patrick

    AU - Rohde, Rebecca

    AU - Schurmann, Claudia

    AU - Guo, Xiuqing

    AU - Giulianini, Franco

    AU - Zhang, Weihua

    AU - Medina-Gomez, Carolina

    AU - Karlsson, Robert

    AU - Bao, Yanchun

    AU - Bartz, Traci M.

    AU - Baumbach, Clemens

    AU - Biino, Ginevra

    AU - Bixley, Matthew J.

    AU - Brumat, Marco

    AU - Chai, Jin Fang

    AU - Corre, Tanguy

    AU - Cousminer, Diana L.

    AU - Dekker, Annelot M.

    AU - Eccles, David A.

    AU - van Eijk, Kristel R.

    AU - Fuchsberger, Christian

    AU - Gao, He

    AU - Germain, Marine

    AU - Gordon, Scott D.

    AU - de Haan, Hugoline G.

    AU - Harris, Sarah E.

    AU - Hofer, Edith

    AU - Huerta-Chagoya, Alicia

    AU - Igartua, Catherine

    AU - Jansen, Iris E.

    AU - Jia, Yucheng

    AU - Kacprowski, Tim

    AU - Karlsson, Torgny

    AU - Kleber, Marcus E.

    AU - Li, Shengchao Alfred

    AU - Li-Gao, Ruifang

    AU - Mahajan, Anubha

    AU - Matsuda, Koichi

    AU - Meidtner, Karina

    AU - Meng, Weihua

    AU - Montasser, May E.

    AU - van der Most, Peter J.

    AU - Munz, Matthias

    AU - Nutile, Teresa

    AU - Palviainen, Teemu

    AU - Prasad, Gauri

    AU - Prasad, Rashmi B.

    AU - Priyanka, Tallapragada Divya Sri

    AU - Rizzi, Federica

    AU - Salvi, Erika

    AU - Sapkota, Bishwa R.

    AU - Shriner, Daniel

    AU - Skotte, Line

    AU - Smart, Melissa C.

    AU - Smith, Albert Vernon

    AU - van der Spek, Ashley

    AU - Spracklen, Cassandra N.

    AU - Strawbridge, Rona J.

    AU - Tajuddin, Salman M.

    AU - Trompet, Stella

    AU - Turman, Constance

    AU - Verweij, Niek

    AU - Viberti, Clara

    AU - Wang, Lihua

    AU - Warren, Helen R.

    AU - Wootton, Robyn E.

    AU - Yanek, Lisa R.

    AU - Yao, Jie

    AU - Yousri, Noha A.

    AU - Zhao, Wei

    AU - Adeyemo, Adebowale A.

    AU - Afaq, Saima

    AU - Aguilar-Salinas, Carlos Alberto

    AU - Akiyama, Masato

    AU - Albert, Matthew L.

    AU - Allison, Matthew A.

    AU - Alver, Maris

    AU - Aung, Tin

    AU - Azizi, Fereidoun

    AU - Bentley, Amy R.

    AU - Boeing, Heiner

    AU - Boerwinkle, Eric

    AU - Borja, Judith B.

    AU - de Borst, Gert J.

    AU - Bottinger, Erwin P.

    AU - Broer, Linda

    AU - Campbell, Harry

    AU - Chanock, Stephen

    AU - Chee, Miao Li

    AU - Chen, Guanjie

    AU - Chen, Yii Der I.

    AU - Chen, Zhengming

    AU - Chiu, Yen Feng

    AU - Cocca, Massimiliano

    AU - Collins, Francis S.

    AU - Concas, Maria Pina

    AU - Corley, Janie

    AU - Cugliari, Giovanni

    AU - van Dam, Rob M.

    AU - Damulina, Anna

    AU - Daneshpour, Maryam S.

    AU - Day, Felix R.

    AU - Delgado, Graciela E.

    AU - Dhana, Klodian

    AU - Doney, Alexander S.F.

    AU - Dörr, Marcus

    AU - Doumatey, Ayo P.

    AU - Dzimiri, Nduna

    AU - Ebenesersdóttir, S. Sunna

    AU - Elliott, Joshua

    AU - Elliott, Paul

    AU - Ewert, Ralf

    AU - Felix, Janine F.

    AU - Fischer, Krista

    AU - Freedman, Barry I.

    AU - Girotto, Giorgia

    AU - Goel, Anuj

    AU - Gögele, Martin

    AU - Goodarzi, Mark O.

    AU - Graff, Mariaelisa

    AU - Granot-Hershkovitz, Einat

    AU - Grodstein, Francine

    AU - Guarrera, Simonetta

    AU - Gudbjartsson, Daniel F.

    AU - Guity, Kamran

    AU - Gunnarsson, Bjarni

    AU - Guo, Yu

    AU - Hagenaars, Saskia P.

    AU - Haiman, Christopher A.

    AU - Halevy, Avner

    AU - Harris, Tamara B.

    AU - Hedayati, Mehdi

    AU - van Heel, David A.

    AU - Hirata, Makoto

    AU - Höfer, Imo

    AU - Hsiung, Chao Agnes

    AU - Huang, Jinyan

    AU - Hung, Yi Jen

    AU - Ikram, M. Arfan

    AU - Jagadeesan, Anuradha

    AU - Jousilahti, Pekka

    AU - Kamatani, Yoichiro

    AU - Kanai, Masahiro

    AU - Kerrison, Nicola D.

    AU - Kessler, Thorsten

    AU - Khaw, Kay Tee

    AU - Khor, Chiea Chuen

    AU - de Kleijn, Dominique P.V.

    AU - Koh, Woon Puay

    AU - Kolcic, Ivana

    AU - Kraft, Peter

    AU - Krämer, Bernhard K.

    AU - Kutalik, Zoltán

    AU - Kuusisto, Johanna

    AU - Langenberg, Claudia

    AU - Launer, Lenore J.

    AU - Lawlor, Deborah A.

    AU - Lee, I. Te

    AU - Lee, Wen Jane

    AU - Lerch, Markus M.

    AU - Li, Liming

    AU - Liu, Jianjun

    AU - Loh, Marie

    AU - London, Stephanie J.

    AU - Loomis, Stephanie

    AU - Lu, Yingchang

    AU - Luan, Jian’an

    AU - Mägi, Reedik

    AU - Manichaikul, Ani W.

    AU - Manunta, Paolo

    AU - Másson, Gísli

    AU - Matoba, Nana

    AU - Mei, Xue W.

    AU - Meisinger, Christa

    AU - Meitinger, Thomas

    AU - Mezzavilla, Massimo

    AU - Milani, Lili

    AU - Millwood, Iona Y.

    AU - Momozawa, Yukihide

    AU - Moore, Amy

    AU - Morange, Pierre Emmanuel

    AU - Moreno-Macías, Hortensia

    AU - Mori, Trevor A.

    AU - Morrison, Alanna C.

    AU - Muka, Taulant

    AU - Murakami, Yoshinori

    AU - Murray, Alison D.

    AU - de Mutsert, Renée

    AU - Mychaleckyj, Josyf C.

    AU - Nalls, Mike A.

    AU - Nauck, Matthias

    AU - Neville, Matt J.

    AU - Nolte, Ilja M.

    AU - Ong, Ken K.

    AU - Orozco, Lorena

    AU - Padmanabhan, Sandosh

    AU - Pálsson, Gunnar

    AU - Pankow, James S.

    AU - Pattaro, Cristian

    AU - Pattie, Alison

    AU - Polasek, Ozren

    AU - Poulter, Neil

    AU - Pramstaller, Peter P.

    AU - Quintana-Murci, Lluis

    AU - Räikkönen, Katri

    AU - Ralhan, Sarju

    AU - Rao, Dabeeru C.

    AU - van Rheenen, Wouter

    AU - Rich, Stephen S.

    AU - Ridker, Paul M.

    AU - Rietveld, Cornelius A.

    AU - Robino, Antonietta

    AU - van Rooij, Frank J.A.

    AU - Ruggiero, Daniela

    AU - Saba, Yasaman

    AU - Sabanayagam, Charumathi

    AU - Sabater-Lleal, Maria

    AU - Sala, Cinzia Felicita

    AU - Salomaa, Veikko

    AU - Sandow, Kevin

    AU - Schmidt, Helena

    AU - Scott, Laura J.

    AU - Scott, William R.

    AU - Sedaghati-Khayat, Bahareh

    AU - Sennblad, Bengt

    AU - van Setten, Jessica

    AU - Sever, Peter J.

    AU - Sheu, Wayne H.H.

    AU - Shi, Yuan

    AU - Shrestha, Smeeta

    AU - Shukla, Sharvari Rahul

    AU - Sigurdsson, Jon K.

    AU - Sikka, Timo Tonis

    AU - Singh, Jai Rup

    AU - Smith, Blair H.

    AU - Stančáková, Alena

    AU - Stanton, Alice

    AU - Starr, John M.

    AU - Stefansdottir, Lilja

    AU - Straker, Leon

    AU - Sulem, Patrick

    AU - Sveinbjornsson, Gardar

    AU - Swertz, Morris A.

    AU - Taylor, Adele M.

    AU - Taylor, Kent D.

    AU - Terzikhan, Natalie

    AU - Tham, Yih Chung

    AU - Thorleifsson, Gudmar

    AU - Thorsteinsdottir, Unnur

    AU - Tillander, Annika

    AU - Tracy, Russell P.

    AU - Tusié-Luna, Teresa

    AU - Tzoulaki, Ioanna

    AU - Vaccargiu, Simona

    AU - Vangipurapu, Jagadish

    AU - Veldink, Jan H.

    AU - Vitart, Veronique

    AU - Völker, Uwe

    AU - Vuoksimaa, Eero

    AU - Wakil, Salma M.

    AU - Waldenberger, Melanie

    AU - Wander, Gurpreet S.

    AU - Wang, Ya Xing

    AU - Wareham, Nicholas J.

    AU - Wild, Sarah

    AU - Yajnik, Chittaranjan S.

    AU - Yuan, Jian Min

    AU - Zeng, Lingyao

    AU - Zhang, Liang

    AU - Zhou, Jie

    AU - Amin, Najaf

    AU - Asselbergs, Folkert W.

    AU - Bakker, Stephan J.L.

    AU - Becker, Diane M.

    AU - Lehne, Benjamin

    AU - Bennett, David A.

    AU - van den Berg, Leonard H.

    AU - Berndt, Sonja I.

    AU - Bharadwaj, Dwaipayan

    AU - Bielak, Lawrence F.

    AU - Bochud, Murielle

    AU - Boehnke, Mike

    AU - Bouchard, Claude

    AU - Bradfield, Jonathan P.

    AU - Brody, Jennifer A.

    AU - Campbell, Archie

    AU - Carmi, Shai

    AU - Caulfield, Mark J.

    AU - Cesarini, David

    AU - Chambers, John C.

    AU - Chandak, Giriraj Ratan

    AU - Cheng, Ching Yu

    AU - Ciullo, Marina

    AU - Cornelis, Marilyn

    AU - Cusi, Daniele

    AU - Smith, George Davey

    AU - Deary, Ian J.

    AU - Dorajoo, Rajkumar

    AU - van Duijn, Cornelia M.

    AU - Ellinghaus, David

    AU - Erdmann, Jeanette

    AU - Eriksson, Johan G.

    AU - Evangelou, Evangelos

    AU - Evans, Michele K.

    AU - Faul, Jessica D.

    AU - Feenstra, Bjarke

    AU - Feitosa, Mary

    AU - Foisy, Sylvain

    AU - Franke, Andre

    AU - Friedlander, Yechiel

    AU - Gasparini, Paolo

    AU - Gieger, Christian

    AU - Gonzalez, Clicerio

    AU - Goyette, Philippe

    AU - Grant, Struan F.A.

    AU - Griffiths, Lyn R.

    AU - Groop, Leif

    AU - Gudnason, Vilmundur

    AU - Gyllensten, Ulf

    AU - Hakonarson, Hakon

    AU - Hamsten, Anders

    AU - van der Harst, Pim

    AU - Heng, Chew Kiat

    AU - Hicks, Andrew A.

    AU - Hochner, Hagit

    AU - Huikuri, Heikki

    AU - Hunt, Steven C.

    AU - Jaddoe, Vincent W.V.

    AU - De Jager, Philip L.

    AU - Johannesson, Magnus

    AU - Johansson, Åsa

    AU - Jonas, Jost B.

    AU - Jukema, J. Wouter

    AU - Junttila, Juhani

    AU - Kaprio, Jaakko

    AU - Kardia, Sharon L.R.

    AU - Karpe, Fredrik

    AU - Kumari, Meena

    AU - Laakso, Markku

    AU - van der Laan, Sander W.

    AU - Lahti, Jari

    AU - Laudes, Matthias

    AU - Lea, Rodney A.

    AU - Lieb, Wolfgang

    AU - Lumley, Thomas

    AU - Martin, Nicholas G.

    AU - März, Winfried

    AU - Matullo, Giuseppe

    AU - McCarthy, Mark I.

    AU - Medland, Sarah E.

    AU - Merriman, Tony R.

    AU - Metspalu, Andres

    AU - Meyer, Brian F.

    AU - Mohlke, Karen L.

    AU - Montgomery, Grant W.

    AU - Mook-Kanamori, Dennis

    AU - Munroe, Patricia B.

    AU - North, Kari E.

    AU - Nyholt, Dale R.

    AU - O’connell, Jeffery R.

    AU - Ober, Carole

    AU - Oldehinkel, Albertine J.

    AU - Palmas, Walter

    AU - Palmer, Colin

    AU - Pasterkamp, Gerard G.

    AU - Patin, Etienne

    AU - Pennell, Craig E.

    AU - Perusse, Louis

    AU - Peyser, Patricia A.

    AU - Pirastu, Mario

    AU - Polderman, Tinca J.C.

    AU - Porteous, David J.

    AU - Posthuma, Danielle

    AU - Psaty, Bruce M.

    AU - Rioux, John D.

    AU - Rivadeneira, Fernando

    AU - Rotimi, Charles

    AU - Rotter, Jerome I.

    AU - Rudan, Igor

    AU - Den Ruijter, Hester M.

    AU - Sanghera, Dharambir K.

    AU - Sattar, Naveed

    AU - Schmidt, Reinhold

    AU - Schulze, Matthias B.

    AU - Schunkert, Heribert

    AU - Scott, Robert A.

    AU - Shuldiner, Alan R.

    AU - Sim, Xueling

    AU - Small, Neil

    AU - Smith, Jennifer A.

    AU - Sotoodehnia, Nona

    AU - Tai, E. Shyong

    AU - Teumer, Alexander

    AU - Timpson, Nicholas J.

    AU - Toniolo, Daniela

    AU - Tregouet, David Alexandre

    AU - Tuomi, Tiinamaija

    AU - Vollenweider, Peter

    AU - Wang, Carol A.

    AU - Weir, David R.

    AU - Whitfield, John B.

    AU - Wijmenga, Cisca

    AU - Wong, Tien Yin

    AU - Wright, John

    AU - Yang, Jingyun

    AU - Yu, Lei

    AU - Zemel, Babette S.

    AU - Zonderman, Alan B.

    AU - Perola, Markus

    AU - Magnusson, Patrik K.E.

    AU - Uitterlinden, André G.

    AU - Kooner, Jaspal S.

    AU - Chasman, Daniel I.

    AU - Loos, Ruth J.F.

    AU - Franceschini, Nora

    AU - Franke, Lude

    AU - Haley, Chris S.

    AU - Hayward, Caroline

    AU - Walters, Robin G.

    AU - Perry, John R.B.

    AU - Esko, Tōnu

    AU - Helgason, Agnar

    AU - Stefansson, Kari

    AU - Joshi, Peter K.

    AU - Kubo, Michiaki

    AU - Wilson, James F.

    PY - 2019/12/1

    Y1 - 2019/12/1

    N2 - In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

    AB - In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

    UR - http://www.scopus.com/inward/record.url?scp=85074297784&partnerID=8YFLogxK

    UR - http://www.scopus.com/inward/citedby.url?scp=85074297784&partnerID=8YFLogxK

    U2 - 10.1038/s41467-019-12283-6

    DO - 10.1038/s41467-019-12283-6

    M3 - Article

    C2 - 31673082

    AN - SCOPUS:85074297784

    VL - 10

    JO - Nature Communications

    JF - Nature Communications

    SN - 2041-1723

    IS - 1

    M1 - 4957

    ER -