移行细胞受体基因多态性(Val14Met和Gln64Arg)在中国并不与系统性红斑狼疮病人。

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姚明X,陈ZQ,龚金桥,陈,李,刘J

移行细胞受体基因多态性(Val14Met和Gln64Arg)在中国并不与系统性红斑狼疮病人。

拱北京医学研究》2007年10月,299 (8):367 - 71。Epub 2007年7月6日。

PubMed ID

17618444 (在PubMed

]

文摘

遗传多态性DNA序列的不同个体,团体或群体产生不同的形式。DNA序列的差异自然发生在一个人口。单核苷酸替换、插入和删除的核苷酸和重复序列(微卫星)都是多态性的例子。这样一个序列的位置差异被发现是一个多态的网站。一个单核苷酸替换称为单核苷酸多态性(SNP)。基因的单核苷酸多态性可以发生在编码部分。如果他们导致遗传代码更改,会发生氨基酸多态性。复杂的heterodimeric IFN-gamma受体(IFNGR)是由两个受体亚基包括IFNGR-1和IFNGR-2。存在五dbSNP IFNGR1等位基因的外显子区域和六个dbSNP IFNGR2等位基因。一些研究人员发现,最大的风险发展的系统性红斑狼疮(SLE)被发现在人Met14 / Val14基因型或结合IFNGR1 Met14 / Val14基因型和IFNGR2 Gln64 / Gln64日本患者的基因型。 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.

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药物靶点

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