title: Association of ERAP1 Gene Polymorphisms With Behçet's Disease in Han Chinese.
abstract: OBJECTIVE
  Behçet's disease (BD) is a common uveitis entity in China. The endoplasmic reticulum aminopeptidase 1 (ERAP1), has a significant influence on the stability and immunological properties of MHC-I loaded peptides. In the present study, we investigated the association of ERAP1 gene polymorphisms with BD in a Chinese Han population.
  
  
  METHODS
  A two-stage case-control study was carried out in 930 BD patients and 1704 healthy controls. Seven single nucleotide polymorphisms (SNPs) of the ERAP1 gene were determined using a PCR restriction fragment length polymorphism (PCR-RFLP) assay and one SNP was genotyped by TaqMan SNP genotyping assay. Furthermore, ERAP1 expression in peripheral blood mononuclear cells (PBMCs) was examined in genotyped individuals by real-time PCR.
  
  
  RESULTS
  The result demonstrated that the frequencies of the A allele of rs1065407 and C allele of rs10050860 were significantly decreased in BD patients (Pc = 8.5 × 10-8, OR = 0.51; Pc = 1.1 × 10-5, OR = 0.54, respectively). No significant association was observed for the other six SNPs. ERAP1 expression in AA carriers of rs1065407 and CC carriers of rs10050860 was higher than that observed in AC/CC carriers (P = 0.022) or CT/TT carriers (P = 0.018) by LPS-stimulated PBMCs, respectively. In addition, the expression of ERAP1 in active BD patients not receiving immunosuppression was significantly lower than that in healthy controls (P = 3.8 × 10-4).
  
  
  CONCLUSIONS
  Our study showed that rs1065407 and rs10050860 of the ERAP1 gene may contribute to the genetic susceptibility of BD by modulating the expression of ERAP1.
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Lijun
authors.initials: L
authors.lastname: Zhang
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Hongsong
authors.initials: H
authors.lastname: Yu
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Minming
authors.initials: M
authors.lastname: Zheng
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Hua
authors.initials: H
authors.lastname: Li
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Yunjia
authors.initials: Y
authors.lastname: Liu
authors.affiliation: University Eye Clinic Maastricht, Maastricht, The Netherlands.
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
mesh_terms: D000328:Adult; D000483:Alleles; D000626:Aminopeptidases / Q000235:genetics* / Q000378:metabolism; D002478:Cells, Cultured; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens; D011110:Polymorphism, Genetic; D012313:RNA / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D014607:Uveomeningoencephalitic Syndrome / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism
chemical_list: D015778:Minor Histocompatibility Antigens; D012313:RNA; D000626:Aminopeptidases; C464841:ERAP1 protein, human