PMID- 19234630 OWN - NLM STAT- MEDLINE DCOM- 20090317 LR - 20211020 IS - 1090-0535 (Electronic) IS - 1090-0535 (Linking) VI - 15 DP - 2009 TI - PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. PG - 386-92 AB - PURPOSE: 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. FAU - Meng, Qianli AU - Meng Q AD - 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. FAU - Liu, Xiaoli AU - Liu X FAU - Yang, Peizeng AU - Yang P FAU - Hou, Shengping AU - Hou S FAU - Du, Liping AU - Du L FAU - Zhou, Hongyan AU - Zhou H FAU - Kijlstra, Aize AU - Kijlstra A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20090220 PL - United States TA - Mol Vis JT - Molecular vision JID - 9605351 RN - 0 (Antigens, CD) RN - 0 (Apoptosis Regulatory Proteins) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DR4 Antigen) RN - 0 (HLA-DR53) RN - 0 (HLA-DRB4 Chains) RN - 0 (PDCD1 protein, human) RN - 0 (Programmed Cell Death 1 Receptor) SB - IM MH - Adult MH - Antigens, CD/*genetics MH - Apoptosis Regulatory Proteins/*genetics MH - Case-Control Studies MH - Chi-Square Distribution MH - China/epidemiology MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - HLA-DR Antigens/genetics MH - HLA-DR4 Antigen/genetics MH - HLA-DRB4 Chains MH - Haplotypes MH - Humans MH - Linkage Disequilibrium MH - Male MH - Polymorphism, Restriction Fragment Length MH - *Polymorphism, Single Nucleotide MH - Programmed Cell Death 1 Receptor MH - Uveomeningoencephalitic Syndrome/epidemiology/*genetics/*pathology PMC - PMC2645903 EDAT- 2009/02/24 09:00 MHDA- 2009/03/18 09:00 PMCR- 2009/01/01 CRDT- 2009/02/24 09:00 PHST- 2008/12/20 00:00 [received] PHST- 2009/02/13 00:00 [accepted] PHST- 2009/02/24 09:00 [entrez] PHST- 2009/02/24 09:00 [pubmed] PHST- 2009/03/18 09:00 [medline] PHST- 2009/01/01 00:00 [pmc-release] AID - 40 [pii] AID - 2008MOLVIS0415 [pii] PST - ppublish SO - Mol Vis. 2009;15:386-92. Epub 2009 Feb 20.