Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
Nat Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272.
We previously reported a genome-wide association study (GWAS) identifying 14 susceptibility loci for generalized vitiligo. We report here a second GWAS (450 individuals with vitiligo (cases) and 3,182 controls), an independent replication study (1,440 cases and 1,316 controls) and a meta-analysis (3,187 cases and 6,723 controls) identifying 13 additional vitiligo-associated loci. These include OCA2-HERC2 (combined P = 3.80 × 10(-8)), MC1R (P = 1.82 × 10(-13)), a region near TYR (P = 1.57 × 10(-13)), IFIH1 (P = 4.91 × 10(-15)), CD80 (P = 3.78 × 10(-10)), CLNK (P = 1.56 × 10(-8)), BACH2 (P = 2.53 × 10(-8)), SLA (P = 1.58 × 10(-8)), CASP7 (P = 3.56 × 10(-8)), CD44 (P = 1.78 × 10(-9)), IKZF4 (P = 2.75 × 10(-14)), SH2B3 (P = 3.54 × 10(-18)) and TOB2 (P = 6.81 × 10(-10)). Most vitiligo susceptibility loci encode immunoregulatory proteins or melanocyte components that likely mediate immune targeting and the relationships among vitiligo, melanoma, and eye, skin and hair coloration.
我们之前报道了一项全基因组关联研究（GWAS），确定了 14 个泛发性白癜风的易感性位点。我们在这里报告第二项 GWAS（450 名白癜风患者（病例）和 3182 名对照）、一项独立的复制研究（1440 名病例和 1316 名对照）和一项荟萃分析（3187 名病例和 6723 名对照），确定了另外 13 个与白癜风相关的位点。这些包括 OCA2-HERC2（合并 P = 3.80×10(-8))、MC1R（P = 1.82×10(-13))、TYR 附近的一个区域（P = 1.57×10(-13))、IFIH1（P = 4.91×10(-15))、CD80（P = 3.78×10(-10))、CLNK（P = 1.56×10(-8))、BACH2（P = 2.53×10(-8))、SLA（P = 1.58×10(-8))、CASP7（P = 3.56×10(-8))、CD44（P = 1.78×10(-9))、IKZF4（P = 2.75×10(-14))、SH2B3（P = 3.54×10(-18)) 和 TOB2（P = 6.81×10(-10))。大多数白癜风易感性位点编码免疫调节蛋白或黑素细胞成分，这些成分可能介导免疫靶向以及白癜风、黑色素瘤和眼睛、皮肤和头发颜色之间的关系。
