Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis.
Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis.
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糖皮质激素受体基因多态性和对类风湿关节炎的敏感性。
DOI：
10.1111/j.1365-2265.2007.02887.x
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发表时间：
2007-09
影响因子：
3.2
通讯作者：
中科院分区：
文献类型：
--
作者：
下丘脑-垂体-肾上腺 (HPA) 轴功能缺陷被认为会导致对类风湿性关节炎 (RA) 的易感性。研究糖皮质激素受体 (GR) 基因的多态性并确定与 RA 的关联。对 GR 基因上 95% 的所有单倍型进行标记的三个 GR 多态性进行了基因分型。它们是内含子 B Bcl1 多态性、内含子 F (rs2307674) 内的 ttg 插入/缺失以及位于外显子 9b (rs6198) 3' 非翻译区的单核苷酸多态性 (SNP)。进行了基于染料终止剂的 SNaPshot 方法或通过毛细管电泳进行尺寸分辨率。研究人群包括 198 名英国白人 RA 病例和 393 名种族匹配的对照。未发现 GR 多态性与 RA 易感性之间存在显着的单点或单倍型关联。此外，没有发现 GR 多态性与 RA 严重程度相关的证据。在这项最全面覆盖 GR 多态性与 RA 的研究中，没有发现 GR 多态性与 RA 的显着贡献作用。
A defect in hypothalamic-pituitary-adrenal (HPA) axis function has been suggested to contribute to susceptibility to rheumatoid arthritis (RA). To investigate polymorphisms of the glucocorticoid receptor (GR) gene and determine any associations with RA. Three GR polymorphisms that tag 95% of all haplotypes across the GR gene were genotyped. These are an intron B Bcl1 polymorphism, a ttg insertion/deletion within intron F (rs2307674) and the single nucleotide polymorphism (SNP) lying in the 3′ untranslated region of exon 9b (rs6198). The dye terminator-based SNaPshot method or size resolution by capillary electrophoresis was performed. The study population comprised 198 UK Caucasian RA cases and 393 ethnically matched controls. No significant single point or haplotypic associations were found for GR polymorphisms with RA susceptibility. Furthermore, no evidence for GR polymorphisms with aspects of RA severity was seen. In this study of the most comprehensive coverage of GR polymorphisms with RA, no significant contributing role for GR polymorphisms with RA was found.