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中国汉族人群中白细胞介素-12b基因多态性与系统性红斑狼疮的相关性研究

The Association of IL-12b Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population.

作者信息

Shao Yong, Zhang Jie, Chen Yuewen, Wu Qi, Guan Ming, Yu Bo, Wan Jun, Zhang Wei

机构信息

Shenzhen Key Lab for Translational Medicine of Dermatology, Shenzhen PKU-HKUST Medical Center, No. 1120, Lianhua Road, Futian District, Shenzhen, Guangdong 518036, China.

出版信息

Int J Rheumatol. 2012;2012:724872. doi: 10.1155/2012/724872. Epub 2012 May 16.

Abstract

Background. Systemic lupus erythematosus (SLE) is a complex immune disease. The genetic variation in the IL-12b gene was found to associate with SLE in Caucasian population. In this study, we examined this association in Chinese Han population by a recently developed method, unlabeled probe-based high resolution melting analysis. Methods. A total of 297 SLE patients and 351 controls were recruited. Unlabeled probe-based high resolution melting analysis (HRMA) was used in genotyping. Results. Statistically significant differences were observed in both genotype and allele frequencies for rs6887695 in the SLE patients as compared with the controls. Minor allele (C) of rs6887695 (P = 0.031, OR 0.78, [95% CI 0.63-0.98]) was found to be protective against SLE. The association of SNP rs6887695 with the diagnostic criteria of SLE was also examined. Minor allele (C) exerts protective effect on the incidence of arthritis (P = 0.013, OR = 0.65, 95% CI = 0.47-0.92) and abnormalities of antinuclear antibody (P = 0.022, OR = 0.68, 95% CI = 0.49-0.95). IL-12b SNPs were irrelevant to other diagnostic criteria of SLE. Summary. Polymorphisms of rs6887695 in IL-12b gene were associated with disease risk, as well as arthritis and antinuclear antibody synthesis, of systemic lupus erythematosus in Chinese population.

摘要

背景。系统性红斑狼疮(SLE)是一种复杂的免疫疾病。在白种人群中发现白细胞介素-12b(IL-12b)基因的遗传变异与系统性红斑狼疮有关。在本研究中,我们采用一种新开发的方法——基于未标记探针的高分辨率熔解分析,在中国汉族人群中检验这种关联。方法。共招募了297例系统性红斑狼疮患者和351例对照。采用基于未标记探针的高分辨率熔解分析(HRMA)进行基因分型。结果。与对照组相比,系统性红斑狼疮患者中rs6887695的基因型和等位基因频率均存在统计学显著差异。发现rs6887695的次要等位基因(C)(P = 0.031,比值比0.78,[95%可信区间0.63 - 0.98])对系统性红斑狼疮具有保护作用。还检验了单核苷酸多态性(SNP)rs6887695与系统性红斑狼疮诊断标准的关联。次要等位基因(C)对关节炎发病率(P = 0.013,比值比 = 0.65,95%可信区间 = 0.47 - 0.92)和抗核抗体异常(P = 0.022,比值比 = 0.68,95%可信区间 = 0.49 - 0.95)具有保护作用。IL-12b单核苷酸多态性与系统性红斑狼疮的其他诊断标准无关。总结。IL-12b基因中rs6887695的多态性与中国人群系统性红斑狼疮的疾病风险以及关节炎和抗核抗体合成有关。

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