Association of FCGR2A/FCGR3A variant rs2099684 with Takayasu arteritis in the Han Chinese population.

Si Chen,Yongzhe Li,Xiaoting Wen,Hui Yuan,Xinping Tian,Fengchun Zhang,Yuan Li,Liubing Li,Jing Li

doi:10.18632/oncotarget.12738

Abstract

Takayasu arteritis (TA) is a chronic large-vessel vasculitis of unclear pathogenesis. A recent genome-wide association study (GWAS) has revealed that the FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX genes confer susceptibility to TA. We investigated the linkage between presumptive TA-related genes (FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX) and TA in the Han Chinese population.We performed a large case-control multi-center study of 412 Han Chinese TA patients and 597 ethnically matched healthy controls. Five single nucleotide polymorphisms (SNPs) were assessed and genotyped using Sequenom MassArray system (iPLEX assay, Sequenom, San Diego, CA, USA).The frequency of the rs2099684 variant G allele in the FCGR2A/FCGR3A gene was significantly higher in the TA patients than in the controls (37.5% compared with 25.4%, OR =1.77, 95% CI: 1.462.14, Pc =1.5×10-8). Similar results were observed in genotype distribution analysis and logistic regression analyses conducted using three genetic models. The allele and genotype distributions for the other polymorphisms were not significantly associated with TA among the Han Chinese patients.The SNP rs2099684 in FCGR2A/FCGR3A can be considered a genetic risk factor for TA in the Chinese Han population. These findings provide further insights into the etiopathogenesis of TA.

Highlights

Takayasu arteritis (TA) is a rare inflammatory disease typically characterized by non-specific inflammation of large arteries, especially the aorta and its major branches [1,2,3]
We investigated gene polymorphisms in FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX in 412 Han Chinese TA patients and 597 ethnically matched healthy individuals to evaluate the genetic factors associated with TA in this population
TA: takayasu arteritis; odds ratios (ORs): odds ratio; CI: confidence interval; χ2: Chi-square test; Pc: P value corrected by Bonferroni method; NA: not available; NA*: the P value of genotypic analysis was calculated under the logistic regression analysis; NS: not significant

Summary

Introduction

Takayasu arteritis (TA) is a rare inflammatory disease typically characterized by non-specific inflammation of large arteries, especially the aorta and its major branches [1,2,3]. TA occurs all over the world and affects individuals of all ethnicities, but the highest prevalence rates have been described in Far East Asia, India, and Mexico, and this disease appears to be less common in European-derived individuals. Its reported incidence in North America is 2.6 cases per million per year [4]. Its estimated incidence in Japan is approximately 40 cases per million [5]. The actual prevalence of this disease is unknown, as no large-scale epidemiological survey has been performed in China. The average age of onset of this disease is between 20 and 40 years [6, 8]

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Results

Conclusion