Abstract

To investigate the association of chemokine gene polymorphisms and Behcet's disease (BD) and Vogt Koyanagi Harada (VKH) disease in a Chinese Han population. A case-control study was performed. Three hundred and seventy-one BD patients, 371 VKH disease patients, and 605 healthy controls were recruited to determine genetic variants of 26 SNPs in 12 chemokine genes with iPLEX Gold genotyping assay and Sequenom MassARRAY or TaqMan SNP assays. In this study, Puncorr values showed a weak association of five SNPs of five genes in BD and three SNPs of three genes in VKH disease. However, after Bonferroni correction, the 26 investigated SNPs showed no significant differences in genetic variants, including genotype and allele frequencies, between BD or VKH disease patients and healthy individuals. Haplotype analysis for the chemokine genes showed a significant association with the TC haplotype of CXCL12 in VKH. Stratified gender analysis and genotype-phenotype analysis were conducted to analyze the association of the 26 SNPs of 12 chemokine genes with BD and VKH disease. However, no significant association was observed after Bonferroni correction. This study showed no association of 26 SNPs in 12 chemokine genes with both BD and VKH disease in a Chinese Han population.

Highlights

  • Uveitis is an intraocular inflammatory disease causing severe visual impairment worldwide [1]

  • The results show that none of the other chemokine genes polymorphisms showed an association with Behcet’s disease (BD) or Vogt-Koyanagi Harada (VKH) disease in the Chinese Han population

  • There was no significant difference in allelic and genotypic frequencies for all the 26 Single Nucleotide Polymorphism (SNP) in the patients of BD or VKH

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Summary

Introduction

Uveitis is an intraocular inflammatory disease causing severe visual impairment worldwide [1]. BD is a chronic, relapsing, multisystemic inflammatory disorder, and its classical clinical characters include oral aphthae, genital ulcers, and recurrent iridocyclitis with hypopyon, which is probably due to an autoimmune response [2]. VKH disease is a multisystem autoimmune disease with a hallmark of diffuse granulomatous uveitis accompanied with poliosis, vitiligo, alopecia, and central nervous system abnormalities [3]. Previous studies showed that chemokines are involved in various inflammatory and autoimmune diseases [8, 9]. Chemokines contribute to the pathogenesis of uveitis, and previous researches showed that a higher chemokine production might be responsible for the more severe clinical manifestations in Behcet’s disease [10]. A comparison of Japanese VKH disease patients with controls indicated a dramatic decrease in the chemokine CSF-CCL2/MCP-1 [11]

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