干扰素-γ受体1和受体2内的多态性组合与系统性红斑狼疮风险相关。
The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus.
作者信息
Nakashima H, Inoue H, Akahoshi M, Tanaka Y, Yamaoka K, Ogami E, Nagano S, Arinobu Y, Niiro H, Otsuka T, Niho Y
机构信息
First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
出版信息
FEBS Lett. 1999 Jun 18;453(1-2):187-90. doi: 10.1016/s0014-5793(99)00701-2.
Genetic factors seem to play a significant role in susceptibility to systemic lupus erythematosus (SLE). We previously described the amino acid polymorphism (Val14Met) within the IFN-gamma receptor 1 (IFN-gammaRI), and that the frequency of the Metl4 allele in SLE patients was significantly higher than that of the healthy control population [Tanaka et al. (1999) Immunogenetics 49, 266-271]. We also found an amino acid polymorphism (Gln64Arg) within IFN-gamma receptor 2 (IFN-gammaR2). Since the IFN-gamma receptor is a complex consisting of IFN-gammaR1 and IFN-gammaR2, we searched for the particular combination of two kinds of amino acid polymorphisms found within the IFN-gamma receptor which plays a prominent role in susceptibility to SLE. The greatest risk of the development of SLE was detected in the individuals who had the combination of IFNGR1 Met14/Val14 genotype and IFNGR2 Gln64/Gln64 genotype.
遗传因素似乎在系统性红斑狼疮（SLE）易感性中起重要作用。我们之前描述了干扰素-γ受体1（IFN-γRI）内的氨基酸多态性（Val14Met），并且SLE患者中Met14等位基因的频率显著高于健康对照人群[Tanaka等人（1999年）《免疫遗传学》49，266 - 271]。我们还在干扰素-γ受体2（IFN-γR2）内发现了一种氨基酸多态性（Gln64Arg）。由于干扰素-γ受体是由IFN-γR1和IFN-γR2组成的复合物，我们寻找在干扰素-γ受体内发现的两种氨基酸多态性的特定组合，其在SLE易感性中起显著作用。在具有IFNGR1 Met14/Val14基因型和IFNGR2 Gln64/Gln64基因型组合的个体中检测到发生SLE的最大风险。
Zotero 插件