Li Shu, Yao Weiyi, Pan Qian, Tang Xianfa, Zhao Suli, Wang Wenjun, Zhu Zhengwei, Gao Jinping, Sheng Yujun, Zhou Fusheng, Zheng Xiaodong, Zuo Xianbo, Sun Liangdan, Zhang Anping
Institute of Dermatology & Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China.
Immunogenetics. 2015 Jul;67(7):347-54. doi: 10.1007/s00251-015-0843-4. Epub 2015 May 8.
Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other immune-related diseases. However, there is no reported study on the associations between immune susceptibility polymorphisms and the risk of vitiligo with immune-related diseases. The aim of this study was to evaluate the potential influence of 10 single-nucleotide polymorphisms (SNPs) at 18q21.31 (rs10503019), 4p16.1 (rs11940117), 3q28 (rs1464510), 14q12 (rs2273844), 12q13.2 (rs2456973), 16q12.2 (rs3213758), 10q25.3 (rs4353229), 3q13.33 (rs59374417), and 10p15.1 (rs706779 and rs7090530) on vitiligo with immune-related diseases in the Chinese Han population. All SNPs were genotyped in 552 patients with vitiligo-associated immune-related diseases and 1656 controls using the Sequenom MassArray system. Data were analyzed with PLINK 1.07 software. The C allele of rs2456973 at 12q13.2 was observed to be significantly associated with vitiligo-associated immune-related diseases (autoimmune diseases and allergic diseases) (P = 0.0028, odds ratio (OR) = 1.27). In subphenotype analysis, the rs2456973 C allele was also significantly associated with early-onset vitiligo by comparing with controls (P = 0.0001) and in the case-only analysis (P = 0.0114). We confirmed that 12q13.2 was an important candidate locus for vitiligo with immune-related diseases (autoimmune diseases and allergic diseases) and affected disease phenotypes with early onset.
泛发性白癜风是一种自身免疫性疾病，其特征为黑素细胞缺失，导致皮肤和毛发出现片状色素脱失，且与其他免疫相关疾病的风险升高有关。然而，尚无关于免疫易感性多态性与白癜风伴免疫相关疾病风险之间关联的报道研究。本研究的目的是评估位于18q21.31（rs10503019）、4p16.1（rs11940117）、3q28（rs1464510）、14q12（rs2273844）、12q13.2（rs2456973）、16q12.2（rs3213758）、10q25.3（rs4353229）、3q13.33（rs59374417）以及10p15.1（rs706779和rs7090530）的10个单核苷酸多态性（SNP）对中国汉族人群中白癜风伴免疫相关疾病的潜在影响。使用Sequenom MassArray系统对552例白癜风伴免疫相关疾病患者和1656例对照进行了所有SNP的基因分型。数据采用PLINK 1.07软件进行分析。观察到12q13.2处的rs2456973的C等位基因与白癜风伴免疫相关疾病（自身免疫性疾病和过敏性疾病）显著相关（P = 0.0028，优势比（OR）= 1.27）。在亚表型分析中，与对照相比，rs2456973的C等位基因在仅病例分析中（P = 0.0114）也与早发型白癜风显著相关（P = 0.0001）。我们证实12q13.2是白癜风伴免疫相关疾病（自身免疫性疾病和过敏性疾病）的一个重要候选基因座，并影响早发型疾病表型。
