Li Ke, Yang Peizeng, Zhao Min, Hou Shengping, Du Liping, Zhou Hongyan, Kijlstra Aize
The First Affiliated Hospital of Chongqing Medical University, Chongqing, PR China.
Mol Vis. 2009 May 11;15:955-61.
The polymorphisms of the Fc receptor-like 3 gene (FCRL3), a novel immunoregulatory gene, have been shown to be associated with certain autoimmune diseases. This study was designed to examine whether the polymorphisms of FCRL3 are associated with susceptibility to Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese population.
A case-control study was performed in 230 Chinese VKH patients and 301 healthy controls. Four single nucleotide polymorphisms (SNPs; -169C/T, -110A/G, +358C/G, and +1381A/G) in FCRL3 were detected using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). human leukocyte antigen -DR4 (HLA-DR4) and HLA-DRw53 genotyping was performed using PCR techniques.
The results showed that the frequency of haplotype CACG was significantly lower in patients when compared with that in controls (p=0.0018, corrected p [pc]=0.0288). A significantly higher frequency was found for haplotype CGGG in HLA-DR4 negative patients than in HLA-DR4 negative controls (p=9.94 x 10(-8), Pc=1.59 x 10(-6)). There were no significant differences in the allele and genotype frequencies of the four investigated SNPs between VKH patients and controls. HLA-DR4 and HLA-DRw53 were significantly associated with VKH syndrome (p=3.21 x 10(-16) and p=7.08 x 10(-5), respectively). Stratification analysis according to HLA-DR4 and HLA-DRw53 did not show any association of FCRL3 polymorphisms with VKH syndrome.
Our study confirms the previous association of HLA-DR4 and HLA-DRw53 with VKH syndrome but fails to demonstrate an association between FCRL3 polymorphisms and VKH syndrome. Haplotype CACG might be a protective haplotype for VKH syndrome, and haplotype CGGG may be a risk haplotype in HLA-DR4 negative individuals.
Fc受体样3基因（FCRL3）是一种新型免疫调节基因，其多态性已被证明与某些自身免疫性疾病相关。本研究旨在探讨FCRL3多态性是否与中国人群中Vogt-小柳-原田（VKH）综合征的易感性相关。
对230例中国VKH患者和301例健康对照进行病例对照研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测FCRL3中的四个单核苷酸多态性（SNP；-169C/T、-110A/G、+358C/G和+1381A/G）。使用PCR技术进行人类白细胞抗原-DR4（HLA-DR4）和HLA-DRw53基因分型。
结果显示，与对照组相比，患者中单体型CACG的频率显著降低（p = 0.0018，校正p [pc]=0.0288）。在HLA-DR4阴性患者中，单体型CGGG的频率显著高于HLA-DR4阴性对照（p = 9.94×10⁻⁸，Pc = 1.59×10⁻⁶）。VKH患者和对照之间，所研究的四个SNP的等位基因和基因型频率没有显著差异。HLA-DR4和HLA-DRw53与VKH综合征显著相关（分别为p = 3.21×10⁻¹⁶和p = 7.08×10⁻⁵）。根据HLA-DR4和HLA-DRw53进行的分层分析未显示FCRL3多态性与VKH综合征之间存在任何关联。
我们的研究证实了先前HLA-DR4和HLA-DRw53与VKH综合征的关联，但未能证明FCRL3多态性与VKH综合征之间存在关联。单体型CACG可能是VKH综合征的一种保护性单体型，而单体型CGGG可能是HLA-DR4阴性个体中的一种风险单体型。
