Molecular Immunogenetics Group, National Institute of Immunology, New Delhi, India.
J Invest Dermatol. 2012 Jan;132(1):124-34. doi: 10.1038/jid.2011.240. Epub 2011 Aug 11.
Vitiligo is a depigmenting disorder of the skin that is characterized by the loss of functional melanocytes from the lesional sites. Although the exact etiology is not understood, autoimmunity is thought to be a crucial deterministic factor. A recurring theme of several autoimmune disorders is the aberrant presentation of self-antigens to the immune system, which triggers downstream perturbations. Here we examine the role of alleles of HLA class I and class II loci to delineate vitiligo manifestation in two distinct populations. Our studies have identified three specific alleles, HLA-A33:01, HLA-B44:03, and HLA-DRB107:01, to be significantly increased in vitiligo patients as compared with controls in both the initial study on North Indians (N=1,404) and the replication study in Gujarat (N=355) cases, establishing their positive association with vitiligo. Both generalized and localized vitiligo have the same predisposing major histocompatibility complex alleles, i.e., B44:03 and DRB1*07:01, in both the populations studied, beside the differences in the frequencies of other alleles, suggesting that localized vitiligo too may be an autoimmune disorder. Significant differences in the amino-acid signatures of the peptide-binding pockets of HLA-A and HLA-B α-chain and HLA-DR β-chain were observed between vitiligo patients and unaffected controls.
白癜风是一种皮肤色素脱失疾病，其特征是病变部位功能性黑素细胞的丧失。尽管确切的病因尚不清楚，但自身免疫被认为是一个关键的决定因素。几个自身免疫性疾病的一个反复出现的主题是自身抗原异常呈递给免疫系统，从而触发下游的干扰。在这里，我们研究了 HLA Ⅰ类和Ⅱ类基因座的等位基因在两个不同人群中划分白癜风表现的作用。我们的研究已经确定了三个特定的等位基因，HLA-A33:01、HLA-B44:03 和 HLA-DRB107:01，与印度北部的对照组相比，在白癜风患者中明显增加（N=1,404），在古吉拉特邦的复制研究中（N=355），这三个等位基因与白癜风的发生有显著的正相关。在两个研究的人群中，全身性和局限性白癜风都有相同的主要组织相容性复合体易感性等位基因，即 B44:03 和 DRB1*07:01，除了其他等位基因的频率不同外，这表明局限性白癜风也可能是一种自身免疫性疾病。在 HLA-A 和 HLA-B α 链和 HLA-DR β 链的肽结合口袋的氨基酸特征上观察到了白癜风患者和未受影响的对照组之间的显著差异。
