健診集団試料を用いたMLXIPL Gln241His多型の適応的意義の検討

DOI オープンアクセス

書誌事項

タイトル別名
  • ASSESSMENT OF THE ADAPTIVE SIGNIFICANCE OF MLXIPL GLN241HIS VARIANT BY USING HEALTH CHECK-UP COHORTS

この論文をさがす

抄録

MLXIPL is a transcription factor that regulates glycolysis, lipogenesis, and cellular response to hypoxia. A genetic variant of MLXIPL, Gln241His, is highly prevalent in a Tibetan highlander population, and has been thought to be the genetic basis of adaption to high-altitude environments in the Tibetan plateau. In the current study, we tested the association between Gln241His and various physiological parameters in over 3,500 Japanese individuals. Novel strong association was found between Gln241His and increased hemoglobin and hematocrit levels (P = 0.0059 and 0.0019, respectively). Tibetans have adapted to the hypoxia by elevating the ventilation and lowering the hemoglobin concentrations. Therefore, although the Gln241His frequency was higher in Tibetans than in other worldwide populations, it is difficult to consider this variant as a part of the genetic adaptation to hypoxia. The Gln241His-induced changes in glucose and lipid metabolism may explain the high prevalence of Gln241His in Tibetans.

収録刊行物

関連プロジェクト

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ