A High Prevalence of Gitelman's Syndrome Mutations in Japanese

Accession number;04A0428315
Title;A High Prevalence of Gitelman's Syndrome Mutations in Japanese
Author; TAGO N (National Cardiovascular Center, Suita, Jpn) KOKUBO Y (National Cardiovascular Center, Suita, Jpn) INAMOTO N (National Cardiovascular Center, Suita, Jpn) NARABA H (National Cardiovascular Center, Suita, Jpn) TOMOIKE H (National Cardiovascular Center, Suita, Jpn) IWAI N (National Cardiovascular Center, Suita, Jpn)
Journal Title;Hypertens Res
Journal Code:Y0303A
ISSN:0916-9636
VOL.27;NO.5;PAGE.327-331(2004)
Figure&Table&Reference;FIG.2, TBL.3, REF.9
Pub. Country;Japan
Language;English
Abstract;The effect of Gitelman syndrome (GS) mutations on the blood pressure in Japanese was examined. The existence of 9 kinds of GS mutations of SLC12A3 gene was examined for 1852 Japanese. The genotype of T180K, A569V, L623P, R642C, L849H heterozygote was recognized in 56, 14, 1, 1, and 47 persons, respectively, and the frequency of the GS mutation was 0.0321. There was no significant difference with wild type in the blood pressure of T180K, A569V, L849H heterozygote. There was no significant difference with wild type in hypertension morbidity of those who had GS mutations. Those who had GS mutations were higher in urine pH than the wild type. Though the GS mutations did not give significant effects on the blood pressure of Japanese, it considered the possibility in which GS was one of the factors of the hypotension of Japanese, because the frequency of the GS mutation was high.
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