Association Study of the Effect of WFS1 Polymorphisms on Risk of Type 2 Diabetes in Japanese Population

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著者

    • Mita Masaki
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Miyake Kazuaki
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Zenibayashi Masako
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Hirota Yushi
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Teranishi Tetsuya
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Kouyama Kunichi
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Sakaguchi Kazuhiko
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine
    • Kasuga Masato
    • Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine

抄録

Mutations of WFS1 gene cause Wolfram syndrome, which is a rare autosomalrecessive disorder characterized by juvenile diabetes mellitus, optic atrophy, deafnessand diabetes insipidus. The product encoded by WFS1 gene, wolframin, could beinvolved in ER stress response causing β-cell loss through impaired cell cycleprogression and increased apoptosis. Recently, polymorphisms in the WFS1 gene werestrongly associated with type 2 diabetes in Caucasians. The aim of the present studywas to examine whether the variants of WFS1 are associated with risk of type 2diabetes in Japanese individuals. Four single nucleotide polymorphisms, rs6446482,rs12511742, rs1801208 (R456H) and rs734312 (H611R) were genotyped in a total of 536diabetic patients and 398 nondiabetic control subjects. Among the four variants,rs12511742 showed a marginal association with susceptibility to type 2 diabetes (oddsratio = 1.32, 95% confidence interval = 1.02-1.71, P = 0.033). Carriers of the risk alleleat rs12511742 exhibited lower pancreas β-cell function (P = 0.017). However, thisassociation disappeared after adjustment for sex, age and BMI (Adjusted P = 0.24).Although we found no evidence for a substantial effect of WFS1 polymorphisms on riskof type 2 diabetes or clinical characteristics of diabetic subjects in Japanese population,this gene is still a good candidate for a type 2 diabetes susceptibility gene, potentially,through impaired insulin secretion.

収録刊行物

  • The Kobe journal of the medical sciences

    The Kobe journal of the medical sciences 54(4), 192-199, 2008-08

    神戸大学

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各種コード

  • NII論文ID(NAID)
    110006884894
  • NII書誌ID(NCID)
    AA00711740
  • 本文言語コード
    ENG
  • 資料種別
    雑誌論文
  • ISSN
    00232513
  • データ提供元
    CJP引用  NII-ELS 
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