Association of E26 Transformation Specific Sequence 1 Variants with Rheumatoid Arthritis in Chinese Han Population.
Association of E26 Transformation Specific Sequence 1 Variants with Rheumatoid Arthritis in Chinese Han Population.
复制标题
E26 转化特异性序列 1 变异体与中国汉族人群中类风湿性关节炎的关联。
DOI：
10.1371/journal.pone.0134875
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Wang L
中科院分区：
文献类型：
--
作者：
Chen L;Huang Z;Yang B;Cai B;Su Z;Wang L
E26转化特异性序列1 （ETS-1）属于调节多种免疫相关基因表达的ETS转录因子家族。越来越多的证据表明，ETS-1可能参与自身免疫性疾病的发病机制。最近的研究提供了证据，证明ETS-1可能与类风湿性关节炎（RA）有关，但尚未明确定义。在这项研究中，我们旨在确定ETS-1的多态性是否在中国汉族类风湿关节炎（RA）的易感性和发展中起作用。根据HapMap数据和先前的相关研究筛选出ETS-1中的4个单核苷酸多态性（snp）。采集了158例RA患者和192例健康人的全血和血清样本。采用聚合酶链反应-高分辨率熔融（PCR-HRM）法进行基因分型，采用SPSS17.0软件进行数据分析。ETS-1 SNP rs73013527与RA易感性、DAS28、CRP呈显著正相关（P<0.001, P = 0.001, P = 0.028）。与对照组相比，rs4937333、rs11221332和rs73013527单倍型CCT或TCT携带者与RA风险降低相关。rs10893872、rs4937333和rs11221332基因型在RA患者和对照组之间的分布无统计学差异。我们的数据进一步支持ETS-1在RA的发病和发展中具有相关作用。rs73013527等位基因T在RA的发生中起保护作用，但在疾病高活动性中是危险因素。Rs10893872、rs11221332和rs4937333与RA易感性和临床特征无关。
E26 transformation specific sequence 1 (ETS-1) belongs to the ETS family of transcription factors that regulate the expression of various immune-related genes. Increasing evidence indicates that ETS-1 could contribute to the pathogenesis of autoimmune disease. Recent research has provided evidence that ETS-1 might correlate with rheumatoid arthritis (RA), but it's not clearly defined. In this study, we aimed to identify whether polymorphisms of ETS-1 play a role in Rheumatoid arthritis (RA) susceptibility and development in Chinese Han population. Four single nucleotide polymorphisms (SNPs) within ETS-1 were selected based on HapMap data and previous associated studies. Whole blood and serum samples were obtained from 158 patients with RA and 192 healthy subjects. Genotyping was performed with polymerase chain reaction-high resolution melting (PCR-HRM) assay and the data was analyzed using SPSS17.0. A significantly positive correlation was observed between the SNP rs73013527 of ETS-1 and RA susceptibility, DAS28 and CRP (P<0.001, P = 0.001, and P = 0.028, respectively). Carriers of the haplotype CCT or TCT for rs4937333, rs11221332 and rs73013527 were associated with decreased risk of RA as compared to controls. No statistical significant difference was observed in the distribution of rs10893872, rs4937333 and rs11221332 genotypes between RA patients and controls. Our data further supports that ETS-1 has a relevant role in the pathogenesis and development of RA. Allele T of rs73013527 plays a protective role in occurrence of RA but a risk factor in the high disease activity. Rs10893872, rs11221332 and rs4937333 are not associated with RA susceptibility and clinical features.