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gallstone

消化

关键词消化 疾病 肝胆系统疾病

词汇介绍

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解析

gallstone 英 /ˈɡɔːlstəʊn/  美 /ˈɡɔːlstoʊn/

释义   n. 胆石;胆结石

例句   Gallstone:Mass of crystallized substances that forms in the gallbladder. 胆石:在胆囊形成的大量晶体化物质。


概述

胆结石,又称胆石症,是发生于肝胆系统内任何部位的结石,包括胆囊结石、胆总管结石、肝总管结石、肝内胆管结石、复合部位结石等,属于消化系统常见疾病,结石反复刺激可引起炎症及胆道梗阻,从而出现腹痛、发烧、黄疸、呕吐等症状,严重者还可能出现感染休克,危及生命安全。 流行病学胆结石的发病率在不同国家、不同人种之间都存在差异。可能与遗传因有关。不同国家间胆结石的类型也存在差异。在西方国家,75%以上的胆结石为胆固醇型,通常发生在胆囊内;在非洲和亚洲,以胆色素结石为主并多见于胆管内。生活方式如饮

Identification and Replication of Six Loci Associated With Gallstone Disease.复制标题

六个与胆石病相关位点的鉴定和复制。

发表时间:2019-08-10

影响因子:15.0

作者: Helene Gellert-Kristensen

期刊:Hepatology

Gallstone disease is a common complex disease that confers a substantial economic burden on society. The genetic underpinnings of gallstone disease remain incompletely understood. We aimed to identify new genetic associations with gallstone disease using publicly available data from the UK Biobank and two large Danish cohorts. We extracted genetic associations with gallstone disease from the Global Biobank Engine(GBE), an online browser of genomewide associations in UK Biobank participants(14,940 cases and 322,268 controls). Significant associations (P-<5x10-8) were retested in two Copenhagen cohorts(comprising 1,522 cases and 18,266 controls). In the Copenhagen Cohorts, we also tested whether a genetic risk score associated with gallstone disease, and whether individual gallstone loci were associated with plasma levels of lipids, lipoproteins, and liver enzymes. We identified 19 loci to be associated with gallstone disease in the GBE. Of these, 12 were replicated in the Copenhagen cohorts, including six previously unknown( in HNF4A, FUT2, SERPINAI, JMIDIC, AC074212.3, and SLCI0A2), and six known loci (in ABCG8, SULT2A1, CYP7A1, TM4SF4, ABCB4, and TTC39B).

译文

胆石病是一种常见的复杂疾病,给社会带来巨大的经济负担。胆结石疾病的遗传基础仍未完全了解。我们旨在利用来自英国生物库和两个丹麦大型研究小组的公开数据,确定与胆结石疾病相关的新遗传关联。我们从全球生物库引擎(GBE)中提取了与胆结石疾病的遗传关联,该引擎是英国生物库参与者中的全基因组关联在线浏览器(14,940例和322,268例对照)。在两个哥本哈根队列(包括1,522例病例和18,266例对照)中,对重要的关联性(P- <5x10-8)进行了重新测试。在哥本哈根队列研究中,我们还测试了遗传风险评分是否与胆结石疾病有关,以及单个胆结石基因座是否与血浆脂质,脂蛋白和肝酶水平相关。我们在GBE中鉴定出19个与胆结石疾病有关的基因座。其中的12个在哥本哈根队列中复制,包括六个以前未知的(在HNF4A,FUT2,SERPINAI,JMIDIC,AC074212.3和SLCI0A2中),以及六个已知的基因座(在ABCG8,SULT2A1,CYP7A1,TM4SF4,ABCB4和TTC39B)。