Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

Abstract 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...

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Autores principales: Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
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Publicado: Nature Portfolio 2021
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spelling oai:doaj.org-article:5fc68a8e0cd1447396ba7d10c59cf7392021-12-02T16:43:39ZExamination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases10.1038/s41598-021-95521-62045-2322https://doaj.org/article/5fc68a8e0cd1447396ba7d10c59cf7392021-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-95521-6https://doaj.org/toc/2045-2322Abstract 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 all 274 pathogenic missense or nonsense variants registered in HGMD Professional. The frequencies of all these alleles were summed to calculate the total variant allele frequency in SLC12A3. The carrier frequency and the disease prevalence were assumed to be twice and the square of the total allele frequency, respectively, according to the Hardy–Weinberg principle. In the Japanese population, the total carrier frequencies were 0.0948 (9.5%) and 0.0868 (8.7%) and the calculated prevalence was 0.00225 (2.3 in 1000 people) and 0.00188 (1.9 in 1000 people) in HGVD and jMorp, respectively. Other ethnicities showed a prevalence varying from 0.000012 to 0.00083. These findings indicate that the prevalence of Gitelman syndrome in the Japanese population is higher than expected and that some other ethnicities also have a higher prevalence than has previously been considered.Atsushi KondoChina NaganoShinya IshikoTakashi OmoriYuya AotoRini RossantiNana SakakibaraTomoko HorinouchiTomohiko YamamuraSadayuki NagaiEri OkadaYuko ShimaKoichi NakanishiTakeshi NinchojiHiroshi KaitoHiroki TakedaHiroaki NagaseNaoya MorisadaKazumoto IijimaKandai NozuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Atsushi Kondo
China Nagano
Shinya Ishiko
Takashi Omori
Yuya Aoto
Rini Rossanti
Nana Sakakibara
Tomoko Horinouchi
Tomohiko Yamamura
Sadayuki Nagai
Eri Okada
Yuko Shima
Koichi Nakanishi
Takeshi Ninchoji
Hiroshi Kaito
Hiroki Takeda
Hiroaki Nagase
Naoya Morisada
Kazumoto Iijima
Kandai Nozu
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
description Abstract 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 all 274 pathogenic missense or nonsense variants registered in HGMD Professional. The frequencies of all these alleles were summed to calculate the total variant allele frequency in SLC12A3. The carrier frequency and the disease prevalence were assumed to be twice and the square of the total allele frequency, respectively, according to the Hardy–Weinberg principle. In the Japanese population, the total carrier frequencies were 0.0948 (9.5%) and 0.0868 (8.7%) and the calculated prevalence was 0.00225 (2.3 in 1000 people) and 0.00188 (1.9 in 1000 people) in HGVD and jMorp, respectively. Other ethnicities showed a prevalence varying from 0.000012 to 0.00083. These findings indicate that the prevalence of Gitelman syndrome in the Japanese population is higher than expected and that some other ethnicities also have a higher prevalence than has previously been considered.
format article
author Atsushi Kondo
China Nagano
Shinya Ishiko
Takashi Omori
Yuya Aoto
Rini Rossanti
Nana Sakakibara
Tomoko Horinouchi
Tomohiko Yamamura
Sadayuki Nagai
Eri Okada
Yuko Shima
Koichi Nakanishi
Takeshi Ninchoji
Hiroshi Kaito
Hiroki Takeda
Hiroaki Nagase
Naoya Morisada
Kazumoto Iijima
Kandai Nozu
author_facet Atsushi Kondo
China Nagano
Shinya Ishiko
Takashi Omori
Yuya Aoto
Rini Rossanti
Nana Sakakibara
Tomoko Horinouchi
Tomohiko Yamamura
Sadayuki Nagai
Eri Okada
Yuko Shima
Koichi Nakanishi
Takeshi Ninchoji
Hiroshi Kaito
Hiroki Takeda
Hiroaki Nagase
Naoya Morisada
Kazumoto Iijima
Kandai Nozu
author_sort Atsushi Kondo
title Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
title_short Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
title_full Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
title_fullStr Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
title_full_unstemmed Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
title_sort examination of the predicted prevalence of gitelman syndrome by ethnicity based on genome databases
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/5fc68a8e0cd1447396ba7d10c59cf739
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