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生长停滞特异性基因 6 基因的遗传多态性与台湾系统性红斑狼疮患者的皮肤血管炎有关。

Genetic polymorphism of the growth arrest-specific 6 gene is associated with cutaneous vasculitis in Taiwanese patients with systemic lupus erythematosus.

机构信息

Department of Internal Medicine, Far Eastern Memorial Hospital, New Taipei City, Taiwan.

出版信息

Clin Rheumatol. 2012 Oct;31(10):1443-8. doi: 10.1007/s10067-012-2027-z. Epub 2012 Jul 5.

DOI:10.1007/s10067-012-2027-z
PMID:22763415
Abstract

The growth arrest-specific 6 (GAS6) gene product participates in platelet activation and granulocyte interaction with the endothelium. Our case-control study aimed to determine whether polymorphism of GAS6 was associated with predisposing risk or specific clinical manifestations of systemic lupus erythematosus (SLE). Two of the single-nucleotide polymorphisms (SNPs) of the GAS6 gene, GAS6 834 + 7G/A (rs8191974) and GAS6 +1332C/T (rs1803628), were investigated in 83 SLE patients and 89 non-lupus control subjects. We demonstrated that among lupus patients, the GAS6 +1332 T allele was more prevalent in patients with cutaneous vasculitis (allele T 41.7 % in patients with cutaneous vasculitis compared with 18.3 % in patients without vasculitis, odds ratio (OR) 3.2, 95 % confidence interval 1.3-8.0, p = 0.016). In conclusion, GAS6 polymorphism is positively associated with cutaneous vasculitis in SLE patients, which suggests that GAS6 polymorphism could be a genetic marker for SLE with cutaneous vasculitis.

摘要

生长停滞特异性基因 6(GAS6)产物参与血小板激活和粒细胞与内皮细胞的相互作用。我们的病例对照研究旨在确定 GAS6 多态性是否与系统性红斑狼疮(SLE)的易感性风险或特定临床表现相关。我们研究了 GAS6 基因的两个单核苷酸多态性(SNP),GAS6 834+7G/A(rs8191974)和 GAS6+1332C/T(rs1803628),在 83 例 SLE 患者和 89 名非狼疮对照组中进行了研究。我们表明,在狼疮患者中,GAS6+1332T 等位基因在皮肤血管炎患者中更为常见(皮肤血管炎患者的等位基因 T 为 41.7%,无血管炎患者为 18.3%,优势比(OR)为 3.2,95%置信区间为 1.3-8.0,p=0.016)。总之,GAS6 多态性与 SLE 患者的皮肤血管炎呈正相关,这表明 GAS6 多态性可能是伴有皮肤血管炎的 SLE 的遗传标志物。

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