Human genetic diversity across South Asian populations: A systematic review and meta-analysis

South Asia comprises genetically diverse populations because its populations have experienced multiple migrations combined with endogamy and isolation throughout history. Research on large-scale genetic variation patterns in this region remains scarce. This study aims to perform both a systematic review and meta-analysis of research about genetic diversity in South Asian populations.

The PubMed database yielded 3798 studies within the time frame from 2010 to 2025. The analysis included 57 studies that fulfilled the required criteria after initial screening. The random-effects model processed pooled F_ST values together with heterozygosity estimates and allele frequency variation across ethnic subgroups.

The genetic differentiation (F_ST) measurements between significant South Asian groups extended from 0.02 to 0.15. The homozygosity levels were significantly higher in tribal populations (mean runs of homozygosity = 0.38) than in caste groups. The combined F_ST value reached 0.072 with a 95% confidence interval ranging from 0.061 to 0.084. The highest heterozygosity values existed among North Indian speakers of the Indo-European language, while isolated tribal populations showed the lowest heterozygosity levels.

The genetic structure of South Asia extends deep into its population because of geographical barriers as well as linguistic and social organization systems. The diverse genetic makeup of populations affects both disease risk profiles and precision medical approaches for individual groups.