2006/01/01 by Noah A. Rosenberg, Saurabh Mahajan, Catalina González‐Quevedo +10 · 99 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic diversity and population structure #Forensic and Genetic Research #Biology #Genetic variation #Population #Genotyping #Genetic admixture #Population genetics #Evolutionary biology #Genetic genealogy #Genetic association #Demography #Genetics #Genotype #Single-nucleotide polymorphism #Gene
paper · pdf · doi:10.1371/journal.pgen.0020215
published in PLoS Genetics 2(12), e215 (Public Library of Science)
openalex publication_date 2006/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/08
Ongoing modernization in India has elevated the prevalence of many complex genetic diseases associated with a western lifestyle and diet to near-epidemic proportions. However, although India comprises more than one sixth of the world's human population, it has largely been omitted from genomic surveys that provide the backdrop for association studies of genetic disease. Here, by genotyping India-born individuals sampled in the United States, we carry out an extensive study of Indian genetic variation. We analyze 1,200 genome-wide polymorphisms in 432 individuals from 15 Indian populations. We find that populations from India, and populations from South Asia more generally, constitute one of the major human subgroups with increased similarity of genetic ancestry. However, only a relatively small amount of genetic differentiation exists among the Indian populations. Although caution is warranted due to the fact that United States-sampled Indian populations do not represent a random sample from India, these results suggest that the frequencies of many genetic variants are distinctive in India compared to other parts of the world and that the effects of population heterogeneity on the production of false positives in association studies may be smaller in Indians (and particularly in Indian-Americans) than might be expected for such a geographically and linguistically diverse subset of the human population.