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

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号25
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータスPublished - 2021 12月
外部発表はい

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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