Aryl hydrocarbon receptor polymorphisms are associated with dry skin phenotypes in Chinese patients with atopic dermatitis
Aryl hydrocarbon receptor polymorphisms are associated with dry skin phenotypes in Chinese patients with atopic dermatitis
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芳基烃受体多态性与中国特应性皮炎患者皮肤干燥表型相关
DOI：
10.1111/ced.13841
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发表时间：
2019-08-01
影响因子：
4.1
通讯作者：
Dou, X.
中科院分区：
文献类型：
--
作者：
Li, Z. Z.;Zhong, W. L.;Dou, X.
背景特应性皮炎(AD)发生的最初事件是表皮屏障功能障碍。最近的研究发现芳烃受体(AHR)在控制微丝蛋白和其他皮肤屏障蛋白的基因表达中起着至关重要的作用，这表明AHR与AD的发病机制之间存在潜在的联系。目的探讨AHR基因多态性与阿尔茨海默病(AD)易感性及AD相关表型的关系。方法选择487例AD患者、210例银屑病患者和226例健康对照，采用聚合酶链式反应和DNA测序的方法对两个AHR单核苷酸多态(rs10249788和rs2066853)进行基因分型。结果AHR基因rs10249788和rs2066853在AD组、银屑病组和HCS组均有分布，但三组间的基因频率和等位基因频率差异无统计学意义。然而，携带rs10249788(CT/TT)或rs2066853(AG+AA)基因的AD患者更有可能出现严重的皮肤干燥评分。在分层分析中，AHR rs2066853(AG+AA)和rs10249788(CT+TT)基因可以预测男性、早发性和变应性鼻炎亚组中重度皮肤干燥表型的风险。此外，rs10249788(CT+TT)和rs2066853(AG+AA)联合基因型导致AD患者发生严重皮肤干燥的风险更高。结论AHR基因多态性与AD发病风险无关，但可预测AD患者的皮肤干燥表型。
Background Epidermal barrier dysfunction is the initial event in the development of atopic dermatitis (AD). Recent studies have identified a crucial role for the aryl hydrocarbon receptor (AHR) in controlling the gene expression of filaggrin and other skin barrier proteins, suggesting an underlying association between AHR and AD pathogenesis. Aim To investigate the role of AHR gene polymorphisms in the susceptibility to AD and in AD-associated phenotypes. Methods We enrolled 487 patients with AD, 210 patients with psoriasis and 226 healthy controls (HCs) from the Han Chinese population, and genotyped two AHR single-nucleotide polymorphisms (rs10249788 and rs2066853) by PCR and subsequent DNA sequencing. Results The AHR rs10249788 and rs2066853 polymorphisms were found in both sets of patients (AD and psoriasis) and in HCs, but no significant differences were detected in genotype or allele frequencies between the three groups. However, patients with AD with the rs10249788 (CT/TT) or rs2066853 (AG + AA) genotype were more likely to have severe dry skin scores. In the stratification analysis, the AHR rs2066853 (AG + AA) and rs10249788 (CT + TT) genotypes could predict a higher risk of severe dry skin phenotypes in the male, early-onset and allergic rhinitis subgroups. Furthermore, the combined rs10249788 (CT + TT) and rs2066853 (AG + AA) genotypes led to a higher risk for severe dry skin in patients with AD. Conclusion AHR polymorphisms are not associated with the risk of AD; however, they may predict a dry skin phenotype in patients with AD.