Li Y, Cheng H, Xiao F-L, Liang B, Zhou F-S, Li P, Zheng X-D, Sun L-D, Yang S, Zhang X-J
Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China.
State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China.
Genes Immun. 2017 Sep;18(3):158-162. doi: 10.1038/gene.2017.15. Epub 2017 Jul 27.
Genome-wide association studies have revealed a large number of genetic-risk loci for many autoimmune diseases. One clear finding emerging from the published genetic studies of autoimmunity is that different autoimmune diseases share susceptibility loci. Recent evidence has demonstrated that UBASH3A gene was associated with multiple autoimmune diseases. The aim of this study was to explore the association between UBASH3A single-nucleotide polymorphisms (SNPs) and atopic dermatitis (AD) in a Chinese Han population. In total, three UBASH3A SNPs (rs11203203, rs3788013 and rs1893592) were genotyped using TaqMan genotyping assays in a Chinese Han population (1012 cases and 1362 controls). Among these SNPs, we selected the SNP rs1893592 with association values of P<5 × 10 for AD in the TaqMan genotyping assay data for further replication in the independent Chinese replication samples (1080 cases and 1367 controls) using a Sequenom MassARRAY system. We combined the association results in two stages using meta-analysis. We found that rs1893592 in UBASH3A showed association with AD (P=1.29 × 10, odds ratio=1.16). These results showed that UBASH3A gene SNP is associated with susceptibility to AD. Further fine mapping and functional studies will be required to identify true causal variant in the UBASH3A gene and its exact role in the pathogenesis of AD.
全基因组关联研究已经揭示了许多自身免疫性疾病的大量遗传风险位点。从已发表的自身免疫性疾病遗传研究中得出的一个明确发现是，不同的自身免疫性疾病共享易感位点。最近的证据表明，UBASH3A基因与多种自身免疫性疾病有关。本研究的目的是探讨中国汉族人群中UBASH3A单核苷酸多态性（SNP）与特应性皮炎（AD）之间的关联。总共在中国汉族人群（1012例病例和1362例对照）中使用TaqMan基因分型检测对三个UBASH3A SNP（rs11203203、rs3788013和rs1893592）进行基因分型。在这些SNP中，我们在TaqMan基因分型检测数据中选择了AD关联值P<5×10的SNP rs1893592，使用Sequenom MassARRAY系统在独立的中国重复样本（1080例病例和1367例对照）中进行进一步重复验证。我们使用荟萃分析将两个阶段的关联结果合并。我们发现UBASH3A中的rs1893592与AD相关（P = 1.29×10，优势比= 1.16）。这些结果表明，UBASH3A基因SNP与AD易感性相关。需要进一步的精细定位和功能研究来确定UBASH3A基因中的真正因果变异及其在AD发病机制中的确切作用。
