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

Jun Hosoe, Ken Suzuki, Fuyuki Miya, Takashi Kato, Tatsuhiko Tsunoda, Yukinori Okada, Momoko Horikoshi, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number25
JournalHuman Genome Variation
Volume8
Issue number1
DOIs
Publication statusPublished - 2021 Dec
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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