干扰素- γ受体基因多态性(Val14Met和Gln64Arg)与中国患者系统性红斑狼疮无关。

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姚旭，陈志强，龚建强，陈明，李阿士，刘杰

干扰素- γ受体基因多态性(Val14Met和Gln64Arg)与中国患者系统性红斑狼疮无关。

中国皮肤医学杂志，2007年10月;299(8):367-71。Epub 2007年7月6日。

PubMed ID

17618444 (PubMed视图

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摘要

遗传多态性是在个体、群体或群体中产生不同形式的DNA序列的差异。种群中自然发生的DNA序列差异。单核苷酸的替换、核苷酸的插入和删除以及重复序列(微卫星)都是多态性的例子。发现这种序列差异的位置是一个多态位点。单核苷酸置换被称为单核苷酸多态性(SNP)。snp可以发生在基因的编码部分。如果它们导致遗传密码改变，则会发生氨基酸多态性。异二聚ifn - γ受体(IFNGR)复合物由两个受体亚基组成，包括IFNGR-1和IFNGR-2。在IFNGR1外显子区存在5个dbSNP等位基因，在IFNGR2中存在6个dbSNP等位基因。一些研究人员发必威国际app现，在日本患者中，具有Met14/Val14基因型或IFNGR1 Met14/Val14基因型和IFNGR2 Gln64/Gln64基因型组合的个体中检测到系统性红斑狼疮(SLE)发展的最大风险。 So we aimed to assess the association between two polymorphisms within the IFNGR gene (A88G and A839G) and SLE in Chinese patients. This study included 154 patients with SLE and 159 unrelated healthy controls. We examined the IFNGR genotype by the reverse transcription-polymerase chain reaction (RT-PCR)-single-strand conformation polymorphism method, RT-PCR-restriction fragment length polymorphism method and DNA sequencing. Genotype frequencies between SLE patients and controls were compared and relationship between genotype frequencies and clinical manifestations of SLE were evaluated. We found that IFNGR2 Arg64/Arg64 genotype decrease the risk of SLE (OR = 2.326, 95% CI 1.181-4.581, Fisher P = 0.015), and the same as IFNGR2 Arg64/Arg64 genotype and IFNGR1 Val14/Val14 genotype combination (OR = 2.420, 95% CI 1.206-4.854, Fisher P = 0.013). The allelic frequency of Val14/Met14 is significantly higher in the patients with oral ulcer or thrombocytopenia when compared with patient without these clinical feature (OR = 4.630, 95% CI 1.370-15.640, Fisher P = 0.021; or OR = 6.368, 95% CI 2.009-20.191, Fisher P = 0.003). On the contrary, the allelic frequency of Val14/Val14 is lower in the patients with oral ulcer or thrombocytopenia than those without these clinical feature (OR = 0.216, 95% CI 0.064-0.730, Fisher P = 0.021; or OR = 0.157, 95% CI 0.050-0.498, Fisher P = 0.003). And after data analysis, we also find that the allelic frequency of Gln64/Gln64 is lower in the patients with arthritis when compared with patient without arthritis (OR = 0.369, 95% CI 0.166-0.818, Fisher P = 0.017). We can conclude that the IFNGR polymorphisms (Val14Met and Gln64Arg) are protective in SLE in Chinese patients. We describe a novel association between Val14/Met14 carriage and patients with oral ulcer or thrombocytopenia.

引用本文的药物库数据

药物靶点

药物	目标	种类	生物	药理作用	行动
干扰素gamma-1b	干扰素受体1	蛋白质	人类	是的	粘结剂	细节
干扰素gamma-1b	干扰素受体2	蛋白质	人类	是的	粘结剂	细节