Genetic landscape of the people of India: a canvas for disease gene exploration

J Genet. 2008 Apr;87(1):3-20. doi: 10.1007/s12041-008-0002-x.


Analyses of frequency profiles of markers on disease or drug-response related genes in diverse populations are important for the dissection of common diseases. We report the results of analyses of data on 405 SNPs from 75 such genes and a 5.2 Mb chromosome, 22 genomic region in 1871 individuals from diverse 55 endogamous Indian populations. These include 32 large (>10 million individuals) and 23 isolated populations, representing a large fraction of the people of India. We observe high levels of genetic divergence between groups of populations that cluster largely on the basis of ethnicity and language. Indian populations not only overlap with the diversity of HapMap populations, but also contain population groups that are genetically distinct. These data and results are useful for addressing stratification and study design issues in complex traits especially for heterogeneous populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 22 / genetics
  • Ethnic Groups / genetics*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genetics, Population*
  • HIV Infections / genetics
  • Haplotypes
  • Humans
  • India
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Polymorphism, Single Nucleotide
  • Receptors, CCR5 / genetics


  • Receptors, CCR5
  • Methylenetetrahydrofolate Reductase (NADPH2)