Key result
Significant genetic divergence in a candidate region for essential hypertension was observed among four local Japanese populations, mostly between isolated island populations and others.
Observational
Yes
There is significant genetic heterogeneity in a hypertension-susceptible region among different local populations in Japan, highlighting the importance of considering population ancestry and size in genetic association studies.
Highlights ancestry effects in Japanese hypertension genetics; leaves open broader applicability of candidate variants.
OBJECTIVE: The aim of the study was to investigate genetic heterogeneity among local Japanese populations. METHODS: We performed a single nucleotide polymorphism (SNP) study of four demographically distinct local populations (population 1: a large city; population 2: isolated islands; populations 3 and 4: rural areas). Seventy SNPs in a region spanning 5 Mb of chromosome 17 known to be a candidate region for essential hypertension were genotyped and linkage disequilibrium analyses were performed. RESULTS: Statistical analyses of SNP allele frequencies and haplotype distribution showed significant divergence among the populations, mostly between population 2 and the other populations. Pairwise D' declined with increasing population size, and smaller populations retained a high linkage disequilibrium. CONCLUSION: Population 2 is likely to have a different ancestry from the majority of the Japanese population, whereas the heterogeneity among the other populations may result from differences in population size or geographic background.
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Kumada et al. (2008) conducted an observational in Essential hypertension. Demographic and geographic background (large city, isolated islands, rural areas) vs. Between local populations was evaluated on SNP allele frequencies, haplotype distribution, and linkage disequilibrium. Significant genetic divergence in a candidate region for essential hypertension was observed among four local Japanese populations, mostly between isolated island populations and others.
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