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

Behcet disease is a complex multisystem disorder. This study aimed to explore the predisposition of PDGFRL at the 8p21.3 locus with Behcet disease and its expression level for different genotypes. A two-stage association study was performed in 719 patients and 1,820 controls for 26 tagSNPs in the PDGFRL gene. Real-time PCR and Bonferroni correction were performed. The first-stage study showed that SNP rs17633132 was associated with Behcet disease (Pc = 5.20 x 10(-3)). Replication and combined studies showed consistent association for rs17633132 T allele and TT genotype (replication: Pc = 3.90 x 10(-4) and 5.70 x 10(-3); combined: Pc = 2.05 x 10(-6) and 3.20 x 10(-4)). No haplotype in PDGFRL was associated with Behcet 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 Behcet-disease-associated gene, PDGFRL, and suggests its involvement of Behcet disease by modulating its transcription. Hum Mutat 34:74-78, 2013.