Article
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Scientific reports - 9 Aug 2021
Kondo Atsushi, Nagano China, Ishiko Shinya, Omori Takashi, Aoto Yuya, Rossanti Rini, Sakakibara Nana, Horinouchi Tomoko, Yamamura Tomohiko, Nagai Sadayuki, Okada Eri, Shima Yuko, Nakanishi Koichi, Ninchoji Takeshi, Kaito Hiroshi, Takeda Hiroki, Nagase Hiroaki, Morisada Naoya, Iijima Kazumoto, Nozu Kandai
Abstract excerpt
Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact prevalence is unknown. We estimated the predicted prevalence of Gitelman syndrome based on multiple genome databases, HGVD and jMorp for the Japanese population and gnomAD for other ethnicities, and included...
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