title: PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome.
abstract: OBJECTIVE
  To analyze the potential association of programmed cell death 1 (PDCD1) with Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population.
  
  
  METHODS
  Three single nucleotide polymorphism (SNPs), PD-1.3G/A, PD-1.5C/T, and PD-1.6G/A, were genotyped in 247 VKH patients and 289 age-, sex-, and ethnically-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The associations of genotypes and alleles with VKH syndrome were analyzed.
  
  
  RESULTS
  All genotype distributions in healthy controls were in Hardy-Weinberg equilibrium. The genotype and allele frequencies of PD-1.3, PD-1.5, and PD-1.6 were not different between patients with VKH syndrome and healthy controls. No significant difference was observed according to the status of human leukocyte antigen (HLA)-DR4 and HLA-DRw53. Compared to the controls, lower frequencies of the PD-1.5C genotype and allele frequencies were observed in VKH patients with extraocular findings.
  
  
  CONCLUSIONS
  PD-1.3 and PD-1.6 polymorphisms are not associated with the susceptibility to VKH syndrome in the Chinese Han population. However, PD-1.5 may be negatively associated with the occurrence of extraocular manifestations of VKH syndrome.
authors.affiliation: Zhongshan Ophthalmic Center, Sun Yat-sen University, Uveitis Study Center of Sun Yat-sen University and International Uveitis Study Laboratory of Guangdong Province, State Key Laboratory of Ophthalmology of Sun Yat-sen University, Guangzhou, P.R.China.
authors.forename: Qianli
authors.initials: Q
authors.lastname: Meng
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Liu
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.forename: Liping
authors.initials: L
authors.lastname: Du
authors.forename: Hongyan
authors.initials: H
authors.lastname: Zhou
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006684:HLA-DR Antigens / Q000235:genetics; D015804:HLA-DR4 Antigen / Q000235:genetics; D059845:HLA-DRB4 Chains; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D014607:Uveomeningoencephalitic Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; D006684:HLA-DR Antigens; D015804:HLA-DR4 Antigen; C050610:HLA-DR53; D059845:HLA-DRB4 Chains; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor