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中国Vogt-小柳-原田(VKH)综合征患者中FCRL3基因多态性研究

Polymorphisms of FCRL3 in a Chinese population with Vogt-Koyanagi-Harada (VKH) syndrome.

作者信息

Li Ke, Yang Peizeng, Zhao Min, Hou Shengping, Du Liping, Zhou Hongyan, Kijlstra Aize

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing, PR China.

出版信息

Mol Vis. 2009 May 11;15:955-61.

Abstract

PURPOSE

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

摘要

目的

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。

方法

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

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。

结论

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。

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