Abstract
To identify additional genetic susceptibility loci for pemphigus vulgaris (PV), we performed the first genome-wide association study in 240 PV cases and 1,031 controls, and we validated in independent samples of 252 cases and 1,852 controls. We identified rs11218708 (P= 3.1 × 10-8, OR=1.54) at 11q24.1 to be significantly associated with PV. Further fine-mapping analysis of PV risk in the MHC region demonstrated three independent variants predisposed to PV, HLA-DRB1*14:04 (P = 2.47 × 10-38; OR = 6.28), rs7454108 at the TAP2 gene (P = 2.78 × 10-12; OR = 3.25), and rs1051336 at the HLA-DRA gene (P = 3.06 × 10-6; OR = 0.33), by stepwise analysis. A systematic evaluation by gene- and pathway-based analyses demonstrated a high tendency for PV susceptibility genes to be associated with autoimmunity. Our study highlighted that immune-mediated processes were involved in the pathophysiology of PV and illustrated the value of imputation to identify variants in the MHC region.
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