PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome

Q.L. Meng, X.L. Liu, P.Z. Yang, S.P. Hou, L.P. Du, H.Y. Zhou, A. Kijlstra

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Abstract

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.
Original languageEnglish
Pages (from-to)386-392
JournalMolecular Vision
Volume15
Issue number40-41
Publication statusPublished - 2009

Keywords

  • systemic-lupus-erythematosus
  • rheumatoid-arthritis
  • programmed cell-death-1
  • regulatory polymorphism
  • association
  • disease
  • pd-1
  • susceptibility
  • population
  • family

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    Meng, Q. L., Liu, X. L., Yang, P. Z., Hou, S. P., Du, L. P., Zhou, H. Y., & Kijlstra, A. (2009). PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. Molecular Vision, 15(40-41), 386-392. https://edepot.wur.nl/148345