Genetic heterogeneity in a susceptible region for essential hypertension among demographically different local populations in Japan.
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.


CONCLUSIONS
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.
Kumada
Maki
M
Department of Human Genetics, Center for Community Medicine, Jichi Medical University, Shimotsuke, Japan. kuman@jichi.ac.jp
Lkhagvasuren
Munkhtulga
M
Utsumi
Nanami
N
Omi
Toshinori
T
Gotoh
Takaya
T
Kamesaki
Toyomi
T
Okuda
Hiroshi
H
Kajii
Eiji
E
Iwamoto
Sadahiko
S
D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000453:epidemiology / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D015810:Linkage Disequilibrium / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012423:Rural Health; D014504:Urban Health