Association between FOXP3 polymorphisms and vitiligo in a Han Chinese population
Association between FOXP3 polymorphisms and vitiligo in a Han Chinese population
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FOXP3 多态性与中国汉族人群白癜风的关联
DOI：
10.1111/bjd.12377
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发表时间：
2013-09-01
影响因子：
10.3
通讯作者：
Gao, T. -W.
中科院分区：
文献类型：
--
作者：
Song, P.;Wang, X. -W.;Gao, T. -W.
白癜风是一种由黑素细胞丢失引起的自身免疫性慢性色素沉着障碍。既往研究发现，CD4(+)CD25（+）调节性t细胞（Treg）功能障碍参与白癜风的发病机制，Treg发育和功能的主要调控因子叉头盒P3 （FOXP3）基因多态性与某些自身免疫性疾病的易感性相关。因此，我们假设FOXP3基因的功能多态性可能通过Treg细胞的失调与白癜风有关。目的探讨FOXP3基因多态性与白癜风发病风险的相关性。材料和方法本研究以医院为基础，对682例白癜风患者和682例无白癜风年龄和性别匹配的对照组进行病例对照研究，利用序列特异性引物（PCR-SSP）进行聚合酶链反应（PCR-SSP），对FOXP3基因rs2232365、rs3761548和rss5902434的三个单核苷酸多态性进行基因分型。结果与rs2232365 AA和rs3761548 CC基因型相比，rs2232365 GG[比值比（OR） 1.68, 95%可信区间（CI） 1.17-2.39, P = 0.004]和rs3761548 AA （OR 1.82, 95% CI 1.10-3.01, P = 0.033）基因型与白癜风风险显著增加相关。在对这3个变异等位基因的综合分析中，我们发现携带2-6个变异等位基因的个体白癜风风险显著增加（OR 1.34, 95% CI 1.08-1.66）。这种风险在以下亚组中更为明显：年龄在100 - 20岁，男性，活动性白癜风，非节段性白癜风和其他伴随的自身免疫性疾病。结论FOXP3基因多态性与中国汉族人群白癜风发病风险有关。
Background Vitiligo is an autoimmune chronic depigmentation disorder caused by melanocyte loss. Previous studies found that CD4(+)CD25(+) regulatory T-cell (Treg) dysfunction was involved in the pathogenesis of vitiligo and that gene polymorphisms in forkhead box P3 (FOXP3) - a master regulator of Treg development and function - were associated with susceptibility to some autoimmune disorders. Therefore, we hypothesized that functional polymorphisms of the FOXP3 gene might be associated with vitiligo via dysregulation of Treg cells.Objectives To evaluate whether FOXP3 polymorphisms are associated with vitiligo risk.Material and methods In this hospital-based case-control study of 682 patients with vitiligo and 682 vitiligo-free age- and sex-matched controls, we genotyped three single nucleotide polymorphisms (SNPs) of the FOXP3 gene - rs2232365, rs3761548 and rs5902434 - by performing polymerase chain reaction with sequence-specific primers (PCR-SSP).Results Significantly increased vitiligo risk was associated with the rs2232365 GG [odds ratio (OR) 1.68, 95% confidence interval (CI) 1.17-2.39, P = 0.004] and rs3761548 AA (OR 1.82, 95% CI 1.10-3.01, P = 0.033) genotypes compared with the rs2232365 AA and rs3761548 CC genotypes. On combined analysis of these three variant alleles, we found that individuals carrying 2-6 variant alleles had significantly increased vitiligo risk (OR 1.34, 95% CI 1.08-1.66). This risk was more pronounced in the following subgroups: age > 20years, male sex, active vitiligo, nonsegmental vitiligo and other accompanying autoimmune diseases.Conclusions FOXP3 gene polymorphisms contributed to vitiligo risk in a Han Chinese population.