Ann Rheum Dis:对208370名东亚人进行荟萃分析确定了系统性红斑狼疮的113个易感基因座

2020-12-16 xiangting MedSci原创

这项研究确定了系统性红斑狼疮的113个易感基因座,并表明大规模的全基因组荟萃分析对于新的遗传发现具有重要作用。

系统性红斑狼疮(SLE)是一种自身免疫性疾病,与将近100个易感基因座有关。然而,这些基因座只部分解释了SLE的遗传力,其假定因果变体很少被优先考虑,这给阐明SLE的病因带来了挑战。为了发现新的SLE基因座和因果变体,这项研究在东亚人群中进行了迄今为止最大规模的全基因组荟萃分析。

这项研究对10029例SLE患者和180167例对照进行了基因分型,随后将它们与东亚地区已发表的3348例SLE患者和14826例对照进行了荟萃分析。应用贝叶斯统计方法来定位与SLE相关的假定因果变体。

结果如下:在全基因组范围内(p<5×10-8)确定了113个遗传区域,包括46个新基因座。条件分析在这些基因座中检测到233个关联信号,这表明存在广泛的等位基因异质性。在6个新的错义突变上检测到全基因组关联。贝叶斯精细映射分析将假定的因果变体优先确定到28个关联信号的一小部分变体。研究为57个SLE位点确定了110个后验概率≥0.1的因果变体,其中确定了10个最可能的因果变体(后验概率≥0.8)。连锁不平衡评分回归发现SLE与白蛋白/球蛋白比值(rg= -0.242)和非白蛋白(rg=0.238)有遗传相关性。

这项研究确定了系统性红斑狼疮的113个易感基因座,并表明大规模的全基因组荟萃分析对于新的遗传发现具有重要作用。

原始出处:

Xianyong Yin. Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. Ann Rheum Dis. December 2020.

 

 

 

 

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    2021-06-20 venlin
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    2021-07-11 zhaojie88
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    2021-01-18 ms7000000346250164

    抢占第一名沙发

    0

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  8. 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  9. 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    2020-12-17 zhouqu_8
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    2020-12-17 jichang

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Hypertension:肺动脉顺应性对系统性红斑狼疮合并肺动脉高压患者的预测价值

肺动脉高压是系统性红斑狼疮严重的并发症,其特点是右心室后负荷增加,主要包括肺动脉顺应性(PAC)和肺血管阻力。PAC在预测系统性红斑狼疮相关的肺动脉高压预后中的作用尚未明确。

全球且**!GSK生物制剂*倍力腾(化学名:贝利尤单抗) 二度参展进博会,为系统性红斑狼疮儿童患者带来希望

在第二届进博会上,倍力腾(化学名:贝利尤单抗)以全球首个获批用于治疗成人系统性红斑狼疮(SLE)的生物制剂身份首次亮相,备受瞩目。在刚刚开幕的第三届进博会上,贝利尤单抗有了另一个身份—&m

AHA 2020丨慢性炎症性疾病的冠心病风险差异很大,系统性红斑狼疮的风险**,银屑病和炎症性肠病与心血管疾病风险增加没有关联

目前AHA/ACC的指南列举了三种慢性炎症性疾病作为动脉粥样硬化性心血管疾病的风险增加因子:类风湿性关节炎、银屑病和艾滋病毒(HIV)感染。

Ann Rheum Dis:贝利木单抗治疗儿童系统性红斑狼疮的安全性和疗效

儿童SLE患者静脉注射贝利木单抗的药代动力学和收益-风险情况与成人的研究一致,每4周10mg/kg的剂量是合适的。

Semin Arthritis Rheu:西罗莫司治疗系统性红斑狼疮的疗效和安全性

对现有数据进行总结表明,西罗莫司治疗SLE很有前途且耐受性良好。