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<p>The Ryukyu archipelago is located southwest of the Japanese islands, and people originally from this region, the Ryukyu population, have a unique genetic background distinct from that of other populations, including people from mainland Japan. However, few genetic studies have focused on the Ryukyu population. In this study, we performed genome-wide association studies (GWAS) on the serum levels of alanine aminotransferase (ALT, n = 15,224), aspartate aminotransferase (AST, n = 15,203), and gamma-glutamyl transferase (GGT, n = 14,496) in the Ryukyu population. We found 13 loci with a genome-wide significant association (<i>P</i> &lt; 5 × 10<sup>−8</sup>), three for ALT, four for AST, and six for GGT, including one novel locus associated with ALT: rs117595134-A in <i>HMMR</i>/<i>HMMR-AS1</i>, ß =  − 0.131, standard error = 0.024, <i>P</i> = 4.90 × 10<sup>−8</sup>. Rs117595134-A is common in the Japanese population but is not observed in other ethnic populations in the 1000 genomes database. Additionally, 77 of 80 loci derived from Korean GWAS and 541 of 716 loci from European GWAS showed the same directions of effect (<i>P</i> = 1.41 × 10<sup>−19</sup>, <i>P</i> = 2.50 × 10<sup>−44</sup>, binomial test), indicating that most of susceptibility loci are shared between the Ryukyu population and other ethnic populations.</p>

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A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population

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  • 发表日期：

    2025年2月22日

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  • Noriko Ohyama,
  • Masatoshi Matsunami,
  • Minako Imamura,
  • Akihiro Yoshida,
  • Azeem Javed,
  • Xiaoxi Liu,
  • Ryosuke Kimura,
  • Koichi Matsuda,
  • Takayuki Morisaki,
  • Yukinori Okada,
  • Yoichiro Kamatani,
  • Kaori Muto,
  • Akiko Nagai,
  • Yoji Sagiya,
  • Natsuhiko Kumasaka,
  • Yoichi Furukawa,
  • Yuji Yamanashi,
  • Yoshinori Murakami,
  • Yusuke Nakamura,
  • Wataru Obara,
  • Ken Yamaji,
  • Kazuhisa Takahashi,
  • Satoshi Asai,
  • Yasuo Takahashi,
  • Shinichi Higashiue,
  • Shuzo Kobayashi,
  • Hiroki Yamaguchi,
  • Yasunobu Nagata,
  • Satoshi Wakita,
  • Chikako Nito,
  • Yu-ki Iwasaki,
  • Shigeo Murayama,
  • Kozo Yoshimori,
  • Yoshio Miki,
  • Daisuke Obata,
  • Masahiko Higashiyama,
  • Akihide Masumoto,
  • Yoshinobu Koga,
  • Yukihiro Koretsune,
  • Chikashi Terao,
  • Shiro Maeda

摘要

The Ryukyu archipelago is located southwest of the Japanese islands, and people originally from this region, the Ryukyu population, have a unique genetic background distinct from that of other populations, including people from mainland Japan. However, few genetic studies have focused on the Ryukyu population. In this study, we performed genome-wide association studies (GWAS) on the serum levels of alanine aminotransferase (ALT, n = 15,224), aspartate aminotransferase (AST, n = 15,203), and gamma-glutamyl transferase (GGT, n = 14,496) in the Ryukyu population. We found 13 loci with a genome-wide significant association (P < 5 × 10−8), three for ALT, four for AST, and six for GGT, including one novel locus associated with ALT: rs117595134-A in HMMR/HMMR-AS1, ß =  − 0.131, standard error = 0.024, P = 4.90 × 10−8. Rs117595134-A is common in the Japanese population but is not observed in other ethnic populations in the 1000 genomes database. Additionally, 77 of 80 loci derived from Korean GWAS and 541 of 716 loci from European GWAS showed the same directions of effect (P = 1.41 × 10−19, P = 2.50 × 10−44, binomial test), indicating that most of susceptibility loci are shared between the Ryukyu population and other ethnic populations.