Department of Internal Medicine, Far Eastern Memorial Hospital, New Taipei City, Taiwan.
Clin Rheumatol. 2012 Oct;31(10):1443-8. doi: 10.1007/s10067-012-2027-z. Epub 2012 Jul 5.
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.
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。