Unraveling the pathogenesis of non-alcoholic fatty liver diseases through genome-wide association studies.

Unraveling the pathogenesis of non-alcoholic fatty liver diseases through genome-wide association studies.
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通过全基因组关联研究揭示非酒精性脂肪性肝病的发病机制

DOI:
10.1111/jgh.16330
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发表时间:
2023-11
影响因子:
4.1
通讯作者:
--
中科院分区:
医学3区
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非酒精性脂肪性肝病(NAFLD)是世界各地的一个重大健康负担,影响约25%的人口。人类遗传数据库的最新进展已经允许鉴定与NAFLD相关性状相关的各种单核苷酸多态性。研究这些遗传因子的功能可以深入了解NAFLD的发病机制,并可能确定NAFLD的新治疗靶点。在这篇综述中,我们总结了目前对NAFLD相关突变基因的研究,强调磷脂重塑和空间聚集位点作为这些突变的共同病理和遗传特征。这些特征表明了分离性脂肪变性和胰岛素抵抗的复杂但有趣的机制,这在一部分患者中观察到,并可能导致未来更精确的NAFLD治疗。
Non-alcoholic fatty liver disease (NAFLD) is a significant health burden around the world, affecting approximately 25% of the population. Recent advances in human genetic databases have allowed for the identification of various single nucleotide polymorphisms associated with NAFLD-related traits. Investigating the functions of these genetic factors provides insight into the pathogenesis of NAFLD and potentially identifies novel therapeutic targets for NAFLD. In this review, we summarized current research on genes with NAFLD-associated mutations, highlighting phospholipid remodeling and spatially clustered loci as common pathological and genetic features of these mutations. These features suggest a complex yet intriguing mechanism of dissociated steatosis and insulin resistance, which is observed in a subset of patients and may lead to more precise therapy against NAFLD in the future.
DOI: 10.1038/s41588-021-00852-9
发表时间: 2021-06
期刊: Nature genetics
影响因子: 30.8
作者:
Chen J;Spracklen CN;Marenne G;Varshney A;Corbin LJ;Luan J;Willems SM;Wu Y;Zhang X;Horikoshi M;Boutin TS;Mägi R;Waage J;Li-Gao R;Chan KHK;Yao J;Anasanti MD;Chu AY;Claringbould A;Heikkinen J;Hong J;Hottenga JJ;Huo S;Kaakinen MA;Louie T;März W;Moreno-Macias H;Ndungu A;Nelson SC;Nolte IM;North KE;Raulerson CK;Ray D;Rohde R;Rybin D;Schurmann C;Sim X;Southam L;Stewart ID;Wang CA;Wang Y;Wu P;Zhang W;Ahluwalia TS;Appel EVR;Bielak LF;Brody JA;Burtt NP;Cabrera CP;Cade BE;Chai JF;Chai X;Chang LC;Chen CH;Chen BH;Chitrala KN;Chiu YF;de Haan HG;Delgado GE;Demirkan A;Duan Q;Engmann J;Fatumo SA;Gayán J;Giulianini F;Gong JH;Gustafsson S;Hai Y;Hartwig FP;He J;Heianza Y;Huang T;Huerta-Chagoya A;Hwang MY;Jensen RA;Kawaguchi T;Kentistou KA;Kim YJ;Kleber ME;Kooner IK;Lai S;Lange LA;Langefeld CD;Lauzon M;Li M;Ligthart S;Liu J;Loh M;Long J;Lyssenko V;Mangino M;Marzi C;Montasser ME;Nag A;Nakatochi M;Noce D;Noordam R;Pistis G;Preuss M;Raffield L;Rasmussen-Torvik LJ;Rich SS;Robertson NR;Rueedi R;Ryan K;Sanna S;Saxena R;Schraut KE;Sennblad B;Setoh K;Smith AV;Sparsø T;Strawbridge RJ;Takeuchi F;Tan J;Trompet S;van den Akker E;van der Most PJ;Verweij N;Vogel M;Wang H;Wang C;Wang N;Warren HR;Wen W;Wilsgaard T;Wong A;Wood AR;Xie T;Zafarmand MH;Zhao JH;Zhao W;Amin N;Arzumanyan Z;Astrup A;Bakker SJL;Baldassarre D;Beekman M;Bergman RN;Bertoni A;Blüher M;Bonnycastle LL;Bornstein SR;Bowden DW;Cai Q;Campbell A;Campbell H;Chang YC;de Geus EJC;Dehghan A;Du S;Eiriksdottir G;Farmaki AE;Frånberg M;Fuchsberger C;Gao Y;Gjesing AP;Goel A;Han S;Hartman CA;Herder C;Hicks AA;Hsieh CH;Hsueh WA;Ichihara S;Igase M;Ikram MA;Johnson WC;Jørgensen ME;Joshi PK;Kalyani RR;Kandeel FR;Katsuya T;Khor CC;Kiess W;Kolcic I;Kuulasmaa T;Kuusisto J;Läll K;Lam K;Lawlor DA;Lee NR;Lemaitre RN;Li H;Lifelines Cohort Study;Lin SY;Lindström J;Linneberg A;Liu J;Lorenzo C;Matsubara T;Matsuda F;Mingrone G;Mooijaart S;Moon S;Nabika T;Nadkarni GN;Nadler JL;Nelis M;Neville MJ;Norris JM;Ohyagi Y;Peters A;Peyser PA;Polasek O;Qi Q;Raven D;Reilly DF;Reiner A;Rivideneira F;Roll K;Rudan I;Sabanayagam C;Sandow K;Sattar N;Schürmann A;Shi J;Stringham HM;Taylor KD;Teslovich TM;Thuesen B;Timmers PRHJ;Tremoli E;Tsai MY;Uitterlinden A;van Dam RM;van Heemst D;van Hylckama Vlieg A;van Vliet-Ostaptchouk JV;Vangipurapu J;Vestergaard H;Wang T;Willems van Dijk K;Zemunik T;Abecasis GR;Adair LS;Aguilar-Salinas CA;Alarcón-Riquelme ME;An P;Aviles-Santa L;Becker DM;Beilin LJ;Bergmann S;Bisgaard H;Black C;Boehnke M;Boerwinkle E;Böhm BO;Bønnelykke K;Boomsma DI;Bottinger EP;Buchanan TA;Canouil M;Caulfield MJ;Chambers JC;Chasman DI;Chen YI;Cheng CY;Collins FS;Correa A;Cucca F;de Silva HJ;Dedoussis G;Elmståhl S;Evans MK;Ferrannini E;Ferrucci L;Florez JC;Franks PW;Frayling TM;Froguel P;Gigante B;Goodarzi MO;Gordon-Larsen P;Grallert H;Grarup N;Grimsgaard S;Groop L;Gudnason V;Guo X;Hamsten A;Hansen T;Hayward C;Heckbert SR;Horta BL;Huang W;Ingelsson E;James PS;Jarvelin MR;Jonas JB;Jukema JW;Kaleebu P;Kaplan R;Kardia SLR;Kato N;Keinanen-Kiukaanniemi SM;Kim BJ;Kivimaki M;Koistinen HA;Kooner JS;Körner A;Kovacs P;Kuh D;Kumari M;Kutalik Z;Laakso M;Lakka TA;Launer LJ;Leander K;Li H;Lin X;Lind L;Lindgren C;Liu S;Loos RJF;Magnusson PKE;Mahajan A;Metspalu A;Mook-Kanamori DO;Mori TA;Munroe PB;Njølstad I;O'Connell JR;Oldehinkel AJ;Ong KK;Padmanabhan S;Palmer CNA;Palmer ND;Pedersen O;Pennell CE;Porteous DJ;Pramstaller PP;Province MA;Psaty BM;Qi L;Raffel LJ;Rauramaa R;Redline S;Ridker PM;Rosendaal FR;Saaristo TE;Sandhu M;Saramies J;Schneiderman N;Schwarz P;Scott LJ;Selvin E;Sever P;Shu XO;Slagboom PE;Small KS;Smith BH;Snieder H;Sofer T;Sørensen TIA;Spector TD;Stanton A;Steves CJ;Stumvoll M;Sun L;Tabara Y;Tai ES;Timpson NJ;Tönjes A;Tuomilehto J;Tusie T;Uusitupa M;van der Harst P;van Duijn C;Vitart V;Vollenweider P;Vrijkotte TGM;Wagenknecht LE;Walker M;Wang YX;Wareham NJ;Watanabe RM;Watkins H;Wei WB;Wickremasinghe AR;Willemsen G;Wilson JF;Wong TY;Wu JY;Xiang AH;Yanek LR;Yengo L;Yokota M;Zeggini E;Zheng W;Zonderman AB;Rotter JI;Gloyn AL;McCarthy MI;Dupuis J;Meigs JB;Scott RA;Prokopenko I;Leong A;Liu CT;Parker SCJ;Mohlke KL;Langenberg C;Wheeler E;Morris AP;Barroso I;Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)
通讯作者: Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)
DOI: 10.1016/j.cell.2022.09.031
发表时间: 2022-10-27
期刊: CELL
影响因子: 64.5
作者:
Kimura, Masaki;Iguchi, Takuma;Iwasawa, Kentaro;Dunn, Andrew;Thompson, Wendy L.;Yoneyama, Yosuke;Chaturvedi, Praneet;Zone, Aaron M.;Wintzinger, Michelle;Quattorcelli, Matti;Watanabe-Chailland, Miki;Zhu, Gaohui;Fujimoto, Masanobu;Kumbaji, Meenasri;Kodaka, Asuka;Gindin, Yevgeniy;Chung, Chuhan;Myers, Robert P.;Subramanian, G. Mani;Hwa, Vivian;Takebe, Takanori
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DOI: 10.1002/hep4.1395
发表时间: 2019-09-01
影响因子: 5.1
作者:
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通讯作者: Trauner, Michael
DOI: 10.1074/jbc.m806194200
发表时间: 2008-10-31
影响因子: 4.8
作者:
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通讯作者: Voelker, Dennis R.
DOI: 10.1002/hep.29041
发表时间: 2017-06-01
期刊: HEPATOLOGY
影响因子: 13.5
作者:
Bruschi, Francesca Virginia;Claudel, Thierry;Trauner, Michael
通讯作者: Trauner, Michael