Research Article

遗传等位基因与多米尼加共和国西班牙裔患者的SLE易感性和临床表现相关

卷 19, 期 3, 2019

页: [164 - 171] 页: 8

弟呕挨: 10.2174/1566524019666190424130809

价格: $65

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摘要

目的:系统性红斑狼疮(SLE)是一种复杂的自身免疫性疾病,不同种族的患病率和疾病严重程度存在显着差异。本研究的目的是描述拉丁美洲队列的特征,并确定在这个拉丁裔西班牙裔队列中发展SLE及其终末器官表现的遗传风险因素。 方法:在多米尼加共和国(DR)招募了201例SLE病例和205例非病变对照。根据1997年修订的美国风湿病学会SLE分类标准确定病例。从全血制备基因组DNA,并应用于42种单核苷酸多态性(SNP)的基因分型分析,所述单核苷酸多态性与其他种族群体中的自身免疫疾病(包括SLE)有关。通过Fisher''s Exact Probability Test分析数据。 结果:在该队列中,SNP rs9271366(HLA-DRB1 * 15:01的标签SNP)在显示与SLE相关的13个MHC基因等位基因中赋予最高的SLE风险(p = 8.748E-10; OR = 3.5)。在分析的26个非MHC基因等位基因中,PTPN22基因中的SNP rs2476601赋予SLE最高风险(p = 0.0001; OR = 5.6)。在DR组中,ITGAM,TNFSF4,TNIP1,STAT4,CARD11,BLK和TNXB基因等位基因被确认为SLE易感等位基因。然而,IRF5和TNFAIP3基因等位基因是欧洲和亚洲血统人群中SLE的既定危险因素,在该队列中与SLE无显着相关性。我们还定义了一种新型HLA-DRA单倍型,它可以增加狼疮性肾炎(LN)和HLA-DRA2和TNFSF4基因等位基因的风险,作为发展神经精神(NP)SLE的遗传风险因素。 结论:我们的数据表明,拉丁美洲人群与其他人群一样具有SLE的一些常见遗传风险因子,但也有明显的风险基因等位基因,这些基因等位基因有助于SLE易感性和LN和NPSLE的发展。这是第一项关注DR中SLE遗传风险因素的研究,这是一种前所未有的拉丁美洲人群。

关键词: 遗传等位基因狼疮,系统性红斑狼疮,SLE,遗传等位基因,西班牙裔患者,遗传危险因素,自身免疫性疾病。

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