We conducted a genome-wide association study of generalized vitiligo in the Chinese Han population by genotyping 1,117 cases and 1,429 controls. The 34 most promising SNPs were carried forward for replication in samples from individuals of the Chinese Han (5,910 cases and 9,916 controls) and Chinese Uygur (713 cases and 824 controls) populations. We identified two independent association signals within the major histocompatibility complex (MHC) region (rs11966200, Pcombined = 1.48 × 10−48, OR = 1.90; rs9468925, Pcombined = 2.21 × 10−33, OR = 0.74). Further analyses suggested that the strong association at rs11966200 might reflect the reported association of the HLA-A*3001, HLA-B*1302, HLA-C*0602 and HLA-DRB1*0701 alleles and that the association at rs9468925 might represent a previously unknown HLA susceptibility allele. We also identified one previously undescribed risk locus at 6q27 (rs2236313, Pcombined = 9.72 × 10−17, OR = 1.20), which contains three genes: RNASET2, FGFR1OP and CCR6. Our study provides new insights into the genetic basis of vitiligo.
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We thank all study participants. We also thank J.-J. Liu, J.-M. Chen and K. Seng Sim at the Genome Institute of Singapore for performing the imputation, association and LD analyses of HLA alleles. This study was supported in part by the Key Project of the Chinese National Natural Science Foundation (No. 30530670), the Cooperation Project of the Chinese Key National Natural Science Foundation for Overseas Youth (No. 30628021) and the Anhui Provincial Special Scientific Program (2007-7).
The authors declare no competing financial interests.
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Quan, C., Ren, Y., Xiang, L. et al. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet 42, 614–618 (2010). https://doi.org/10.1038/ng.603
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