Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City

Journal of genetics

James G. Wetmur²  Mary S. Wolff¹  Susan Teitelbaum¹  Yin Leng Lee¹  Jia Chen1 4 5¹ 

[1] Departments of Preventive Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA$$;Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA$$

关键词: population stratification;    ancestry informative markers (AIMs);    race;    ethnicity;    genetic epidemiology;    forensic genetics;    Hispanics.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

Self-reported race/ethnicity is frequently used in epidemiological studies to assess an individual’s background origin. However, in admixed populations such as Hispanic, self-reported race/ethnicity may not accurately represent them genetically because they are admixed with European, African and Native American ancestry. We estimated the proportions of genetic admixture in an ethnically diverse population of 396 mothers and 188 of their children with 35 ancestry informative markers (AIMs) using the STRUCTURE version 2.2 program. The majority of the markers showed significant deviation from Hardy–Weinberg equilibrium in our study population. In mothers self-identified as Black and White, the imputed ancestry proportions were 77.6% African and 75.1% European respectively, while the racial composition among self-identified Hispanics was 29.2% European, 26.0% African, and 44.8% Native American.We also investigated the utility of AIMs by showing the improved fitness of models in paraoxanase-1 genotype–phenotype associations after incorporating AIMs; however, the improvement was moderate at best. In summary, a minimal set of 35 AIMs is sufficient to detect population stratification and estimate the proportion of individual genetic admixture; however, the utility of these markers remains questionable.

【 授权许可】

Unknown