Symptom Science

Advocating for Inclusion of Functional Genetic Polymorphisms

Mitchell R. Knisely, Megan Maserati, Lacey W. Heinsberg, Lisa L. Shah, Hongjin Li, Yehui Zhu, Yumi Ma, Letitia Y. Graves, John Merriman, Yvette P. Conley

Research output: Contribution to journalArticle

Abstract

Incorporating biologically based data into symptom science research can contribute substantially to understanding commonly experienced symptoms across chronic conditions. The purpose of this literature review was to identify functional polymorphisms associated with common symptoms (i.e., pain, sleep disturbance, fatigue, affective and cognitive symptoms) with the goal of identifying a parsimonious list of functional genetic polymorphisms with evidence to advocate for their inclusion in symptom science research. PubMed was searched to identify genes and functional polymorphisms associated with symptoms across chronic conditions, revealing eight functional genetic polymorphisms in seven different genes that showed evidence of association with at least three or more symptoms and/or symptom clusters: BDNF rs6265, COMT rs4680, FKBP5 rs3800373, IL-6 rs1800795, NFKB2 rs1056890, SLC6A4 5-HTTLPR+rs25531, and TNFA rs1799964 and rs1800629. Of these genes, three represent protein biomarkers previously identified as common data elements for symptom science research (BDNF, IL-6, and TNFA), and the polymorphisms in these genes identified through the search are known to impact secretion or level of transcription of these protein biomarkers. Inclusion of genotype data for polymorphisms offers great potential to further advance scientific knowledge of the biological basis of individual symptoms and symptom clusters across studies. Additionally, these polymorphisms have the potential to be used as targets to optimize precision health through the identification of individuals at risk for poor symptom experiences as well as the development of symptom management interventions.

Original languageEnglish (US)
JournalBiological Research for Nursing
DOIs
StatePublished - Jan 1 2019

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Genetic Polymorphisms
Brain-Derived Neurotrophic Factor
Genes
Interleukin-6
Biomarkers
Research
Neurobehavioral Manifestations
Affective Symptoms
PubMed
Fatigue
Sleep
Proteins
Genotype
Pain
Health

Keywords

  • biomarker
  • functional genetic polymorphism
  • symptom science

ASJC Scopus subject areas

  • Research and Theory

Cite this

Knisely, M. R., Maserati, M., Heinsberg, L. W., Shah, L. L., Li, H., Zhu, Y., ... Conley, Y. P. (2019). Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms. Biological Research for Nursing. https://doi.org/10.1177/1099800419846407

Symptom Science : Advocating for Inclusion of Functional Genetic Polymorphisms. / Knisely, Mitchell R.; Maserati, Megan; Heinsberg, Lacey W.; Shah, Lisa L.; Li, Hongjin; Zhu, Yehui; Ma, Yumi; Graves, Letitia Y.; Merriman, John; Conley, Yvette P.

In: Biological Research for Nursing, 01.01.2019.

Research output: Contribution to journalArticle

Knisely, MR, Maserati, M, Heinsberg, LW, Shah, LL, Li, H, Zhu, Y, Ma, Y, Graves, LY, Merriman, J & Conley, YP 2019, 'Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms', Biological Research for Nursing. https://doi.org/10.1177/1099800419846407
Knisely, Mitchell R. ; Maserati, Megan ; Heinsberg, Lacey W. ; Shah, Lisa L. ; Li, Hongjin ; Zhu, Yehui ; Ma, Yumi ; Graves, Letitia Y. ; Merriman, John ; Conley, Yvette P. / Symptom Science : Advocating for Inclusion of Functional Genetic Polymorphisms. In: Biological Research for Nursing. 2019.
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