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

Abstract 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 popu...

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Bibliographic Details
Published inbioRxiv
Main Authors Hosoe, Jun, Suzuki, Ken, Kato, Takashi, Okada, Yukinori, Horikoshi, Momoko, Shojima, Nobuhiro, Yamauchi, Toshimasa, Kadowaki, Takashi
Format Paper
LanguageEnglish
Published Cold Spring Harbor Cold Spring Harbor Laboratory Press 26.03.2020
Subjects
Diabetes
Diabetes mellitus (non-insulin dependent)
Genome-wide association studies
Genomes
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Summary:Abstract 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.
DOI:10.1101/2020.03.24.006254