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目的:研究细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因启动子区-1772(T/C)位点和外显子1中的+49(A/G)位点基因多态性与中国汉族人群系统性红斑狼疮(SLE)的相关性。方法:应用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)方法,对76例SLE患者和100例中国汉族正常对照者进行CTLA-4基因-1772(T/C)位点和+49(A/G)位点多态性检测。结果:与正常对照组比较,SLE患者CTLA-4基因-1772位点TT和CC基因型频率均明显升高(32.9%比14%,χ2=8.938,P=0.003;11.8%比2%,χ2=7.139,P=0.008),TC基因型频率明显降低(55.3%比84%,χ2=17.533,P=0.000);+49位点各基因型频率、等位基因频率和携带者频率总体分布均无显著性差异(P>0.05)。结论:CTLA-4基因+49位点多态性与中国汉族SLE无明显相关性,而-1772位点多态性与中国汉族SLE明显相关,CTLA-4基因可能是SLE的易感基因。
OBJECTIVE: To study the polymorphism of the +49 (A / G) locus in the promoter region -1772 (T / C) and exon 1 of cytotoxic T lymphocyte associated antigen-4 (CTLA- And Chinese Han population systemic lupus erythematosus (SLE) correlation. Methods: The T / C CTLA-4 gene was detected in 76 patients with SLE and 100 normal Han controls by polymerase chain reaction-restriction fragment length polymorphism (RFLP) And +49 (A / G) locus polymorphism. Results: Compared with the control group, the frequency of TT and CC genotype at -1772 in CTLA-4 gene were significantly increased in patients with SLE (32.9% vs 14%, χ2 = 8.938, P = 0.003; 11.8% vs 2%, χ2 = 7.139, P = 0.008). The TC genotype frequencies were significantly lower (55.3% vs 84%, χ2 = 17.533, P = 0.000). The genotype frequency, allele frequency and carrier frequency distribution at + 49 locus No significant difference (P> 0.05). Conclusion: The +49 locus polymorphism of CTLA-4 gene is not significantly associated with SLE in Han Chinese, while -1772 polymorphism is significantly associated with SLE in Chinese Han population. CTLA-4 gene may be a susceptible gene of SLE.