Department of Biomedical Laboratory Science, Catholic Kwandong University, Gangneung, Seoul, South Korea.
Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, South Korea.
Indian J Dermatol Venereol Leprol. 2022 Nov-Dec;88(6):749-754. doi: 10.25259/IJDVL_219_2021.
Background Vitiligo is a pigmentary skin disorder characterised by a chronic and progressive loss of melanocytes. Although several theories have been suggested to the pathogenesis of vitiligo, an autoimmune process leading to melanocyte destruction appears most likely. Human leukocyte antigen-G is a non-classic, major histocompatibility complex Class I molecule that plays an important role in the suppression of the immune response. Several recent studies have provided evidences that polymorphisms in the human leukocyte antigen-G gene might be related with autoimmune diseases. Objectives The aim of this study was to decide whether exonic single nucleotide polymorphisms in human leukocyte antigen-G contribute to the risk of developing non-segmental vitiligo in the Korean population. Methods To evaluate the associations between exonic single nucleotide polymorphisms (rs1630223 [Ala5Ala] and rs12722477 [Leu134Ile]) of human leukocyte antigen-G and vitiligo, 244 patients with vitiligo and 398 healthy controls were recruited. Genotyping was performed using Fluidigm 192.24 Dynamic Array with EP1 (Fluidigm Corp., CA). The SNP type assay (Fluidigm Corp., CA), which employs allele-specifically designed fluorescences (FAM or VIC) primers and a common reverse primer was applied and the data were analysed using the EP1 single nucleotide polymorphisms genotyping analysis software to obtain genotype calls. Results Two exonic single nucleotide polymorphisms (rs1630223 and rs12722477) exhibited significant associations with susceptibility and remained a statistically significant association following Bonferroni correction. These two single nucleotide polymorphisms were located within a block of linkage disequilibrium. Haplotypes G-C and A-A comprising rs1630223 and rs12722477 demonstrated a significant association with non-segmental vitiligo. Limitations The protein expression level of patients with vitiligo and controls was not studied and a replication study of the genetic association in an independent group was not managed. Conclusion Our results suggest that exonic human leukocyte antigen-G polymorphisms (rs1630223 and rs12722477) are associated with the development of non-segmental vitiligo.
白癜风是一种以黑素细胞慢性进行性丧失为特征的色素性皮肤疾病。尽管已经提出了几种关于白癜风发病机制的理论，但似乎最有可能的是自身免疫过程导致黑素细胞破坏。人类白细胞抗原-G 是一种非经典的主要组织相容性复合体 I 类分子，在抑制免疫反应中发挥重要作用。最近的几项研究表明，人类白细胞抗原-G 基因的多态性可能与自身免疫性疾病有关。目的：本研究旨在确定人类白细胞抗原-G 外显子单核苷酸多态性是否与韩国人群非节段性白癜风的发病风险有关。方法：为了评估人类白细胞抗原-G 外显子单核苷酸多态性（rs1630223[Ala5Ala]和 rs12722477[Leu134Ile]）与白癜风之间的关联，招募了 244 例白癜风患者和 398 名健康对照者。采用 Fluidigm 192.24 Dynamic Array with EP1（Fluidigm Corp.，CA）进行基因分型。应用 SNP 型分析（Fluidigm Corp.，CA），该方法采用等位基因特异性设计的荧光（FAM 或 VIC）引物和通用反向引物，并用 EP1 单核苷酸多态性基因分型分析软件进行数据分析，以获得基因型。结果：两个外显子单核苷酸多态性（rs1630223 和 rs12722477）与易感性显著相关，经 Bonferroni 校正后仍存在统计学意义。这两个单核苷酸多态性位于连锁不平衡块内。包含 rs1630223 和 rs12722477 的单倍型 G-C 和 A-A 与非节段性白癜风显著相关。局限性：未研究白癜风患者和对照组的蛋白质表达水平，也未对独立组的遗传关联进行复制研究。结论：我们的研究结果表明，外显子人类白细胞抗原-G 多态性（rs1630223 和 rs12722477）与非节段性白癜风的发生有关。
