Distribution of APOE variants in four Northeast Indian populations

Polymorphisms in the human apolipoprotein E gene (ApoE) have been extensively studied for associations with various complex diseases. Numerous population genetic studies have reported the distribution of ApoE alleles in global populations. In this study, we present new data on the distribution of ApoE polymorphisms among four Northeast Indian populations, namely, Kachari, Rabha, Ahom, and an Indo-European caste group. Allele frequencies, Hardy-Weinberg equilibrium, genotype and phenotype probabilities were based on the two SNPs, rs7412 and rs429358. Of the APOE genotypes, derived from rs429358 and rs7412 SNPs, 3/3 and 3/4 genotypes were the most frequent in all groups and only Rabha showed higher frequency of 2/3 genotype. The Kachari population showed the highest frequency of CT genotype for SNP rs429358 and the highest frequency of allele *E4 in the Indian subcontinent, which was much higher than other study populations of eastern India.