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类风湿关节炎中的IFNGR1单核苷酸多态性

IFNGR1 single nucleotide polymorphisms in rheumatoid arthritis.

作者信息

Mattyasovszky Stefan, Skapenko Alla, Kalden Joachim R, Lipsky Peter E, Schulze-Koops Hendrik

机构信息

Nikolaus Fiebiger Center for Molecular Medicine, Clinical Research Group III, University of Erlangen, Germany.

出版信息

Arthritis Res Ther. 2006;8(3):R63. doi: 10.1186/ar1927. Epub 2006 Mar 23.

Abstract

On the basis of their biological function, potential genetic candidates for susceptibility to rheumatoid arthritis can be postulated. IFNGR1, encoding the ligand-binding chain of the receptor for interferon gamma, IFNgammaR1, is one such gene because interferon gamma is involved in the pathogenesis of the disease. In the coding sequence of IFNGR1, two nucleotide positions have been described to be polymorphic in the Japanese population. We therefore investigated the association of those two IFNGR1 single nucleotide polymorphisms with rheumatoid arthritis in a case-control study in a central European population. Surprisingly, however, neither position was polymorphic in the 364 individuals examined, indicating that IFNGR1 does not contribute to susceptibility to rheumatoid arthritis, at least in Caucasians.

摘要

基于类风湿关节炎易感性的生物学功能,可以推测出潜在的遗传候选基因。编码干扰素γ受体(IFNγR1)配体结合链的IFNGR1就是这样一个基因,因为干扰素γ参与了该疾病的发病机制。在日本人群中,IFNGR1的编码序列中有两个核苷酸位置被描述为具有多态性。因此,我们在中欧人群的一项病例对照研究中,调查了这两个IFNGR1单核苷酸多态性与类风湿关节炎的关联。然而,令人惊讶的是,在所检测的364名个体中,这两个位置均无多态性,这表明至少在白种人中,IFNGR1对类风湿关节炎的易感性没有影响。

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