Lan Yan, Tang Xiu-sheng, Qin Jun, Wu Jie, Qin Ji-min
Department of Dermatology, the Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi, 533000 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):433-6. doi: 10.3760/cma.j.issn.1003-9406.2010.04.016.
To investigate the association of single nucleotide polymorphisms(SNP) of FOXP3 gene with susceptibility to systematic lupus erythematosus (SLE) in Chinese Zhuang population.
Author analyzed the -2383 C/T and -3281 C/A two SNPs of the FOXP3 gene promoter in 120 patients with SLE and 160 age and sex matched controls in a Chinese Zhuang population, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing.
The distribution of the FOXP3 gene -3281 C/A polymorphism was not different between the two groups. However, the FOXP3 gene -2383 C/T polymorphism was significantly different (P<0.05) between the two groups. The relative risk of suffering from SLE of -2383T allele carriers was 1.715 times of the -2383C allele carriers (OR=1.715, 95%CI: 1.165-2.525). Consistent with the results of the genotyping analyses, the FOXP3 -2383T/-3281A haplotype frequency in patients with SLE was significantly higher than that in controls (P<0.05). The -2383T/-3281A allele was associated with a significantly increased risk of SLE (OR=2.196, 95%CI: 1.165-4.142).
The FOXP3 gene -2383C/T polymorphism is associated with SLE, and the -2383T allele is risk factor for SLE in the population studied.
探讨叉头框蛋白P3（FOXP3）基因单核苷酸多态性（SNP）与中国壮族人群系统性红斑狼疮（SLE）易感性的关系。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术和DNA测序法，分析120例SLE患者及160例年龄、性别相匹配的对照者的FOXP3基因启动子区-2383 C/T和-3281 C/A两个SNP。
两组间FOXP3基因-3281 C/A多态性分布无差异。然而，两组间FOXP3基因-2383 C/T多态性存在显著差异（P<0.05）。-2383T等位基因携带者患SLE的相对风险是-2383C等位基因携带者的1.715倍（OR=1.715，95%CI：1.
