Department of Dermatology, Fourth Military Medical University, Xi'an, Shaanxi, China.
Br J Dermatol. 2012 May;166(5):1081-7. doi: 10.1111/j.1365-2133.2011.10798.x.
Vitiligo is an acquired depigmentation disorder resulting from selective destruction of melanocytes. The aryl hydrocarbon receptor (AHR) is vital to the regulation of melanogenesis and melanocyte proliferation and differentiation through modulating the expressions of melanogenesis-related genes. AHR mutations may negatively affect AHR proteins and its target genes. Therefore, we hypothesized that AHR polymorphisms might be involved in vitiligo by impacting the transcriptional activities of related genes as mentioned above.
To evaluate the potential association between AHR polymorphisms and vitiligo susceptibility.
We performed a hospital-based, case-control study of 1000 patients with vitiligo and 1000 vitiligo-free but age- and gender-matched controls. Two single nucleotide polymorphisms of the AHR gene (rs10249788 and rs2066853) were selected and genotyped using a polymerase chain reaction-restriction fragment length polymorphism method.
A statistically significantly decreased risk of vitiligo was found to be associated with the TT and CT genotypes of rs10249788 [odds ratio (OR) 0·59, 95% confidence interval (CI) 0·38-0·93; P = 0·028 and OR 0·82, 95% CI 0·68-0·98; P = 0·032, respectively] as well as among subgroups: male, active, nonsegmental vitiligo, and onset age ≤ 20 years. Moreover, subjects with the combined (CT + TT)/GG genotype or T/G haplotype (rs10249788/rs2066853) showed a decreased risk for vitiligo (OR 0·57, 95% CI 0·37-0·87, P = 0·009 and OR 0·78, 95% CI 0·64-0·96, P = 0·033, respectively).
These results suggest that the T allele of rs10249788 located in the promoter of the AHR gene is associated with a protective effect on vitiligo in Han Chinese populations.
白癜风是一种获得性色素脱失性疾病，其特征是黑素细胞的选择性破坏。芳香烃受体 (AHR) 通过调节黑色素生成相关基因的表达，对黑色素生成和黑素细胞增殖分化至关重要。AHR 突变可能会影响 AHR 蛋白及其靶基因的功能。因此，我们假设 AHR 多态性可能通过影响上述相关基因的转录活性而参与白癜风的发病。
评估 AHR 多态性与白癜风易感性之间的潜在关联。
我们进行了一项基于医院的病例对照研究，纳入了 1000 例白癜风患者和 1000 例年龄和性别匹配的白癜风非患者对照。选择 AHR 基因的两个单核苷酸多态性 (rs10249788 和 rs2066853)，并采用聚合酶链反应-限制性片段长度多态性方法进行基因分型。
与 rs10249788 的 TT 和 CT 基因型相比，TT 和 CT 基因型与白癜风的发病风险呈统计学显著降低相关[比值比 (OR) 0.59，95%置信区间 (CI) 0.38-0.93；P=0.028 和 OR 0.82，95%CI 0.68-0.98；P=0.032]，且在以下亚组中也存在相关性：男性、活动期、非节段性白癜风和发病年龄≤20 岁。此外，具有 CT+TT/ GG 基因型或 T/G 单倍型(rs10249788/rs2066853)的个体发生白癜风的风险降低[OR 0.57，95%CI 0.37-0.87，P=0.009 和 OR 0.78，95%CI 0.64-0.96，P=0.033]。
这些结果表明，AHR 基因启动子区 rs10249788 的 T 等位基因与汉族人群白癜风的保护作用有关。
