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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations
Shengping Hou1, Xiang Xiao, Yan Zhou
1The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, PR China.
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.
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