Communicated by Pui-Yan Kwok
Genetic Variant on PDGFRL Associated with Behçet Disease in Chinese Han Populations
Article first published online: 11 OCT 2012
© 2012 Wiley Periodicals, Inc.
Volume 34, Issue 1, pages 74–78, January 2013
How to Cite
Hou, S., Xiao, X., Zhou, Y., Zhu, X., Li, F., Kijlstra, A. and Yang, P. (2013), Genetic Variant on PDGFRL Associated with Behçet Disease in Chinese Han Populations. Hum. Mutat., 34: 74–78. doi: 10.1002/humu.22208
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.
- Issue published online: 20 DEC 2012
- Article first published online: 11 OCT 2012
- Accepted manuscript online: 24 AUG 2012 09:34AM EST
- Manuscript Accepted: 14 AUG 2012
- Manuscript Received: 22 MAY 2012
- Natural Science Foundation Major International (Regional) Joint Research Project. Grant Number: 30910103912
- National Natural Science Foundation Project. Grant Numbers: 81070723, 81270990
- Chongqing Key Laboratory of Ophthalmology. Grant Number: 2008CA5003
- Natural Science Foundation. Grant Number: 81130019
- Chongqing Natural Science Foundation. Grant Number: 2010BB5389
- Doctoral Program of Higher Education of China. Grant Number: 20115503110002
- PAR-EU Scholars Program
- Behçet disease;
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.