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

Authors

  • Shengping Hou,

    1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, P.R. China
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  • Xiang Xiao,

    1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, P.R. China
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  • Yan Zhou,

    1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, P.R. China
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  • Xiao Zhu,

    1. Center for Biotechnology and Genomic Medicine, Georgia Health Sciences University, Augusta, Georgia
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  • Fuzhen Li,

    1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, P.R. China
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  • Aize Kijlstra,

    1. Eye Research Institute Maastricht, Department of Ophthalmology, University Hospital Maastricht, Maastricht, Limburg, The Netherlands
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  • Peizeng Yang

    Corresponding author
    • The First Affiliated Hospital of Chongqing Medical University, Chongqing Eye Institute, Chongqing and Chongqing Key Laboratory of Ophthalmology, Chongqing, P.R. China
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  • Communicated by Pui-Yan Kwok

  • Contract grant sponsors: Natural Science Foundation Major International (Regional) Joint Research Project (30910103912); National Natural Science Foundation Project (81070723, 81270990); Program for the Training of a Hundred Outstanding S&T Leaders of Chongqing Municipality, Chongqing Key Laboratory of Ophthalmology (CSTC, 2008CA5003); Key Project of Natural Science Foundation (81130019); Chongqing Natural Science Foundation (CSTC, 2010BB5389); Research Fund for the Doctoral Program of Higher Education of China (20115503110002); Fund for PAR-EU Scholars Program.

Correspondence to: Peizeng Yang, The First Affiliated Hospital of Chongqing Medical University, Youyi Road 1, Chongqing, 400016, P. R. China. E-mail: peizengycmu@126.com

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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