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

フォーマット:

論文

責任表示:

Tsutaya, Shoji ; Sugimoto, Kazuhiro ; Nakaji, Shigeyuki ; Yasujima, Minoru

言語:

英語

出版情報:

弘前大学大学院医学研究科・弘前医学会, 2011-12-26

著者名:

• Tsutaya, Shoji
• Sugimoto, Kazuhiro
• Nakaji, Shigeyuki
• Yasujima, Minoru

掲載情報:

弘前医学

ISSN:

0439-1721      

巻:

62

通号:

2-4

開始ページ:

122

終了ページ:

128

バージョン:

publisher

概要:

　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 analys … is 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. 続きを見る

URL:

http://hdl.handle.net/10129/4511