title: Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations.
abstract: Behçet disease is a complex multisystem disorder. This study aimed to explore the predisposition of PDGFRL at the 8p21.3 locus with Behçet 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 Behçet disease (Pc = 5.20 × 10(-3)). Replication and combined studies showed consistent association for rs17633132 T allele and TT genotype (replication: Pc = 3.90 × 10(-4) and 5.70 × 10(-3); combined: Pc = 2.05 × 10(-6) and 3.20 × 10(-4)). No haplotype in PDGFRL was associated with Behçet 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 Behçet-disease-associated gene, PDGFRL, and suggests its involvement of Behçet disease by modulating its transcription.
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, PR China.
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.forename: Xiang
authors.initials: X
authors.lastname: Xiao
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Xiao
authors.initials: X
authors.lastname: Zhu
authors.forename: Fuzhen
authors.initials: F
authors.lastname: Li
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001528:Behcet Syndrome / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002681:China; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017479:Receptors, Platelet-Derived Growth Factor / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C550706:PDGFRL protein, human; D025521:Tumor Suppressor Proteins; D017479:Receptors, Platelet-Derived Growth Factor