Genetics of gallstone disease revisited: updated inventory of human lithogenic genes
Genetics of gallstone disease revisited: updated inventory of human lithogenic genes
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重新审视胆石病的遗传学：人类成石基因的更新清单
DOI：
10.1097/mog.0000000000000511
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发表时间：
2019
影响因子：
2.5
通讯作者：
F. Lammert
中科院分区：
文献类型：
--
作者：
S. Weber;C. Bopp;M. Krawczyk;F. Lammert
综述目的胆石病是胃肠病学中最常见的疾病之一，通过内窥镜检查和手术进行治疗会导致我们的医疗保健系统产生高昂的费用。家庭和双胞胎研究表明，胆结石在一定程度上是由基因决定的。在这里，我们回顾了最近所有关于人类胆结石的全基因组和全表组研究，并提供了最新的“人类成石基因清单”。最新发现最大的人群归因风险是由肝脏和肠道胆固醇转运蛋白 ABCG5/G8 的常见变异 (p.D19H) 赋予的。第二种 ABC 转运蛋白，肝磷脂酰胆碱易位酶 ABCB4，一般会增加胆结石疾病、胆囊癌和慢性肝病的风险，而常见的 PNPLA3 风险变异 p.I148M 会降低胆结石风险。摘要 更好地了解胆石病的病理机制可能有助于通过对高危患者进行个性化预防来克服目前对这种异常普遍且具有经济意义的消化系统疾病的侵入性治疗。
Purpose of review Gallstone disease is one of the most frequent diseases in gastroenterology and treatment by endoscopy and surgery causes high costs in our health-care systems. Family and twin studies have demonstrated that gallstones are, in part, genetically determined. Here we review all recent genome-wide and phenome-wide studies of gallstones in humans and provide an updated ‘inventory of human lithogenic genes.’ Recent findings The largest population attributable risk is conferred by the common variant (p.D19H) of the hepatic and intestinal cholesterol transporter ABCG5/G8. A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. Summary Better understanding of the pathomechanisms of gallstone disease might help to overcome the current invasive treatment of this exceptionally prevalent and economically significant digestive disease by personalized prevention in at-risk patients.
影响因子：
30.8
作者：
Buch, Stephan;Schafmayer, Clemens;Hampe, Jochen
通讯作者：
Hampe, Jochen
影响因子：
25.7
作者：
Folseraas, Trine;Melum, Espen;Rausch, Philipp;Juran, Brian D.;Ellinghaus, Eva;Shiryaev, Alexey;Laerdahl, Jon K.;Ellinghaus, David;Schramm, Christoph;Weismueller, Tobias J.;Gotthard, Daniel Nils;Hov, Johannes Roksund;Clausen, Ole Petter;Weersma, Rinse K.;Janse, Marcel;Boberg, Kirsten Muri;Bjornsson, Einar;Marschall, Hanns-Ulrich;Cleynen, Isabelle;Rosenstiel, Philip;Holm, Kristian;Teufel, Andreas;Rust, Christian;Gieger, Christian;Wichmann, H-Erich;Bergquist, Annika;Ryu, Euijung;Ponsioen, Cyriel Y.;Runz, Heiko;Sterneck, Martina;Vermeire, Severine;Beuers, Ulrich;Wijmenga, Cisca;Schrumpf, Erik;Manns, Michael P.;Lazaridis, Konstantinos N.;Schreiber, Stefan;Baines, John F.;Franke, Andre;Karlsen, Tom H.
通讯作者：
Karlsen, Tom H.
影响因子：
29.4
作者：
Joshi AD;Andersson C;Buch S;Stender S;Noordam R;Weng LC;Weeke PE;Auer PL;Boehm B;Chen C;Choi H;Curhan G;Denny JC;De Vivo I;Eicher JD;Ellinghaus D;Folsom AR;Fuchs C;Gala M;Haessler J;Hofman A;Hu F;Hunter DJ;Janssen HL;Kang JH;Kooperberg C;Kraft P;Kratzer W;Lieb W;Lutsey PL;Darwish Murad S;Nordestgaard BG;Pasquale LR;Reiner AP;Ridker PM;Rimm E;Rose LM;Shaffer CM;Schafmayer C;Tamimi RM;Uitterlinden AG;Völker U;Völzke H;Wakabayashi Y;Wiggs JL;Zhu J;Roden DM;Stricker BH;Tang W;Teumer A;Hampe J;Tybjærg-Hansen A;Chasman DI;Chan AT;Johnson AD
通讯作者：
Johnson AD