Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico

Esther Erdei, Huiping Sheng, Erika Maestas, Amanda Mackey, Kirsten A. White, Lin Li, Yan Dong, Justin Taylor, Marianne Berwick, Douglas E. Morse

Research output: Contribution to journalArticle

Abstract

Background: Hispanics are known to be an extremely diverse and genetically admixed ethnic group. The lack of methodologies to control for ethnicity and the unknown admixture in complex study populations of Hispanics has left a gap in understanding certain cancer disparity issues. Incidence rates for oral and pharyngeal cancer (OPC) in Puerto Rico are among the highest in the Western Hemisphere. We conducted an epidemiological study to examine risk and protective factors, in addition to possible genetic susceptibility components, for oral cancer and precancer in Puerto Rico. Methodology/Principal Findings: We recruited 310 Puerto Rico residents who had been diagnosed with either an incident oral squamous cell carcinoma, oral precancer, or benign oral condition. Participants completed an in-person interview and contributed buccal cells for DNA extraction. ABI Biosystem Taqman™ primer sets were used for genotyping 12 ancestry informative markers (AIMs). Ancestral group estimates were generated using maximum likelihood estimation software (LEADMIX), and additional principal component analysis was carried out to detect population substructures. We used unconditional logistic regression to assess the contribution of ancestry to the risk of being diagnosed with either an oral cancer or precancer while controlling for other potential confounders. The maximum likelihood estimates showed that study participants had a group average ancestry contribution of 69.9% European, 24.5% African, and 5.7% detectable Native American. The African and Indigenous American group estimates were significantly higher than anticipated. Neither self-identified ethnicity nor ancestry markers showed any significant associations with oral cancer/precancer risk in our study. Conclusions/Significance: The application of ancestry informative markers (AIMs), specifically designed for Hispanics, suggests no hidden population substructure is present based on our sampling and provides a viable approach for the evaluation and control of ancestry in future studies involving Hispanic populations.

Original languageEnglish (US)
Article numbere23950
JournalPLoS One
Volume6
Issue number8
DOIs
StatePublished - Aug 29 2011

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Puerto Rico
Mouth Neoplasms
nationalities and ethnic groups
Hispanic Americans
ancestry
neoplasms
Population
mouth
Neoplasms
Maximum likelihood estimation
Pharyngeal Neoplasms
Likelihood Functions
Principal component analysis
Maximum likelihood
North American Indians
Logistics
Cheek
Genetic Predisposition to Disease
Principal Component Analysis
Ethnic Groups

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Erdei, E., Sheng, H., Maestas, E., Mackey, A., White, K. A., Li, L., ... Morse, D. E. (2011). Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico. PLoS One, 6(8), [e23950]. https://doi.org/10.1371/journal.pone.0023950

Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico. / Erdei, Esther; Sheng, Huiping; Maestas, Erika; Mackey, Amanda; White, Kirsten A.; Li, Lin; Dong, Yan; Taylor, Justin; Berwick, Marianne; Morse, Douglas E.

In: PLoS One, Vol. 6, No. 8, e23950, 29.08.2011.

Research output: Contribution to journalArticle

Erdei, E, Sheng, H, Maestas, E, Mackey, A, White, KA, Li, L, Dong, Y, Taylor, J, Berwick, M & Morse, DE 2011, 'Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico', PLoS One, vol. 6, no. 8, e23950. https://doi.org/10.1371/journal.pone.0023950
Erdei, Esther ; Sheng, Huiping ; Maestas, Erika ; Mackey, Amanda ; White, Kirsten A. ; Li, Lin ; Dong, Yan ; Taylor, Justin ; Berwick, Marianne ; Morse, Douglas E. / Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico. In: PLoS One. 2011 ; Vol. 6, No. 8.
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