Abstract
IntroductionETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese.MethodsWe selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on HapMap data and previous genome-wide association study. Genotyping involved the TaqMan method in 1,015 patients with AS and 1,132 healthy controls from Shandong Province, and 352 AS patients and 400 healthy controls from Ningxia, a northwest region in China. Gene expression was determined by real-time PCR.ResultsThe SNP rs1128334 was strongly associated with AS (odds ratio 1.204, 95% confidence interval 1.06-1.37; P = 0.005). This association was confiexrmed in the Ningxia population (P = 0.015). Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. In addition, ETS1 expression was lower in AS patients than controls. The risk allele A of rs1128334 and haplotype A-T of rs1128334 and rs4937333 were associated with decreased expression of ETS1.ConclusionsCommon variants in ETS1 may contribute to AS susceptibility in Han Chinese people.
Highlights
ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases
human leukocyte antigen (HLA)-B27 is strongly associated with risk of ankylosing spondylitis (AS), its associated genes account for only 20% to 30% of the overall genetic risk of AS [1]
Frequency of the rs1128334 allele A was significantly higher in AS patients (P = 0.005, odds ratio (OR) 1.204, 95% CI 1.06, 1.37) than in healthy controls
Summary
ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. Genetic factors are strongly implicated in the pathogenesis of the disease, and the estimated heritability is up to 97% according to a twin study [3,4]. The major histocompatibility complex (MHC), mostly from human leukocyte antigen B27 (HLA-B27), accounts for nearly half of the predisposition for AS [5]. HLA-B27 is strongly associated with risk of AS, its associated genes account for only 20% to 30% of the overall genetic risk of AS [1]. Besides HLA-B27, non-MHC genes implicated in the risk
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