Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan

概要

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　Gitelman’s syndrome （GS） is considered to be a rare disorder. To assess the prevalence of GS in theJapanese general population and the relationships between mutations of related genes and blood pressure, weperformed mutational analysis of the SLC12A3 gene on 1,567 subjects from Aomori Prefecture in northern Japan.Three GS mutations in SLC12A3, identified in the subjects with hypokalemia in a preliminary study were assessedby the TaqMan PCR method. We detected T180K, L849H and R919C missense mutations in 40, 49 and 57 subjects,respectively. The overall frequency of GS mutations was 8.9%. The mutant allele frequency of T180K, L849H andR919C was 1.3, 1.6 and 1.9%, respectively. GS mutant allele frequency in the 1,567 Japanese was more than 4.8%. Inaddition, subjects with L849H mutation had significantly lower systolic blood pressure when compared to subjectswith wild-type SLC12A3（ 121.8 ± 18.4 versus 127.8 ± 18.9 mmHg; P < 0.05）. In conclusion, the present results suggestthat the frequency of GS mutations is unexpectedly high, although GS is considered to be a rare disorder. The resultsalso suggest that loss-of-function in the SLC12A3 via the L849H mutation reduces blood pressure, thereby contributingto resistance to hypertension.
弘前大学の論文