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  • Title: Genetic heterogeneity in a susceptible region for essential hypertension among demographically different local populations in Japan.
    Author: Kumada M, Lkhagvasuren M, Utsumi N, Omi T, Gotoh T, Kamesaki T, Okuda H, Kajii E, Iwamoto S.
    Journal: Community Genet; 2008; 11(3):150-9. PubMed ID: 18376111.
    Abstract:
    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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