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Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes

Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, b...

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Autores principales: Hosoe, Jun, Suzuki, Ken, Miya, Fuyuki, Kato, Takashi, Tsunoda, Tatsuhiko, Okada, Yukinori, Horikoshi, Momoko, Shojima, Nobuhiro, Yamauchi, Toshimasa, Kadowaki, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257626/
https://www.ncbi.nlm.nih.gov/pubmed/34226521
http://dx.doi.org/10.1038/s41439-021-00156-8
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author Hosoe, Jun
Suzuki, Ken
Miya, Fuyuki
Kato, Takashi
Tsunoda, Tatsuhiko
Okada, Yukinori
Horikoshi, Momoko
Shojima, Nobuhiro
Yamauchi, Toshimasa
Kadowaki, Takashi
author_facet Hosoe, Jun
Suzuki, Ken
Miya, Fuyuki
Kato, Takashi
Tsunoda, Tatsuhiko
Okada, Yukinori
Horikoshi, Momoko
Shojima, Nobuhiro
Yamauchi, Toshimasa
Kadowaki, Takashi
author_sort Hosoe, Jun
collection PubMed
description Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, but rare in Europeans. We report in silico structural analysis of ethnic-specific variants of PAX4, which suggests the pathogenic effect of these variants.
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spelling pubmed-82576262021-07-23 Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes Hosoe, Jun Suzuki, Ken Miya, Fuyuki Kato, Takashi Tsunoda, Tatsuhiko Okada, Yukinori Horikoshi, Momoko Shojima, Nobuhiro Yamauchi, Toshimasa Kadowaki, Takashi Hum Genome Var Data Report Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, but rare in Europeans. We report in silico structural analysis of ethnic-specific variants of PAX4, which suggests the pathogenic effect of these variants. Nature Publishing Group UK 2021-07-05 /pmc/articles/PMC8257626/ /pubmed/34226521 http://dx.doi.org/10.1038/s41439-021-00156-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Hosoe, Jun
Suzuki, Ken
Miya, Fuyuki
Kato, Takashi
Tsunoda, Tatsuhiko
Okada, Yukinori
Horikoshi, Momoko
Shojima, Nobuhiro
Yamauchi, Toshimasa
Kadowaki, Takashi
Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
title Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
title_full Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
title_fullStr Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
title_full_unstemmed Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
title_short Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
title_sort structural basis of ethnic-specific variants of pax4 associated with type 2 diabetes
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257626/
https://www.ncbi.nlm.nih.gov/pubmed/34226521
http://dx.doi.org/10.1038/s41439-021-00156-8
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