APOE epsilon4 allele frequencies vary widely across Indian populations with implications for dementia risk assessment.

This observational study examined APOE epsilon4 allele frequencies within the GenomeIndia dataset, encompassing a sample size of 9,524 participants from various Indian populations. The primary outcome assessed was the distribution of APOE epsilon4 allele frequencies, while secondary outcomes included correlations with lipid phenotypes such as LDL, HDL, total cholesterol, and triglycerides. No specific intervention was applied as this was a genetic epidemiology study.

The analysis revealed that APOE epsilon4 allele frequencies ranged from 2.7% to 36.1%, with a median frequency of 11% across the studied groups. Notably, tribal populations demonstrated higher frequencies compared to non-tribal groups, whereas Tibeto-Burman populations exhibited significantly lower frequencies. In one specific tribal population from the northern coastal highlands, the frequency was 0.36, with 59% of individuals identified as carriers.

Significant correlations were observed between epsilon4 carrier status and lipid phenotypes including LDL, HDL, total cholesterol, and triglycerides. The study did not report specific adverse events, discontinuations, or tolerability data, as these outcomes are not applicable to genetic association studies. The primary limitation identified was that the distribution of these alleles across Indian populations remains poorly characterized.

These data have implications for population-specific screening strategies, genetic counseling, and precision medicine approaches to dementia prevention. Clinicians should recognize that APOE epsilon4 prevalence varies substantially within India, necessitating caution when applying general risk estimates derived from other ethnic groups. Further research is needed to fully characterize these distributions and refine risk models for diverse Indian demographics.