Genetic Variant on PDGFRL Associated with Behçet Disease in Chinese Han Populations

B ehçet disease is a complex multisystem disorder. This study aimed to explore the predisposition of PDGFRL at the 8p21.3 locus with B ehçet disease and its expression level for different genotypes. A two‐stage association study was performed in 719 patients and 1,820 controls for 26 tag SNP s in the PDGFRL gene. Real‐time PCR and B onferroni correction were performed. The first‐stage study showed that SNP rs17633132 was associated with B ehçet disease ( P c = 5.20 × 10 −3 ). Replication and combined studies showed consistent association for rs17633132 T allele and TT genotype (replication: P c = 3.90 × 10 −4 and 5.70 × 10 −3 ; combined: P c = 2.05 × 10 −6 and 3.20 × 10 −4 ). No haplotype in PDGFRL was associated with B ehçet disease. The expression of PDGFRL in skin from rs17633132 CC genotype individuals was increased compared to that in those with the CT or TT genotype ( P  = 0.028, P  = 0.032, respectively). This study identified a B ehçet‐disease‐associated gene, PDGFRL , and suggests its involvement of B ehçet disease by modulating its transcription.