Genetics of Type 2 Diabetes: Implications from Large-Scale Studies.
Genetics of Type 2 Diabetes: Implications from Large-Scale Studies.
复制标题
DOI:
10.1007/s11892-022-01462-3
复制
发表时间:
2022-05
影响因子:
4.2
通讯作者:
Majithia, Amit R.
中科院分区:
文献类型:
--
作者:
DeForest, Natalie;Majithia, Amit R.
Type 2 diabetes (T2D) is a multifactorial, heritable syndrome characterized by dysregulated glucose homeostasis that results from impaired insulin secretion and insulin resistance. Genetic association studies have successfully identified hundreds of T2D risk loci implicating many genes in disease pathogenesis. In this review, we provide an overview of the recent T2D genetic studies from the past 3 years with particular focus on the effects of sample size and ancestral diversity on genetic discovery as well as discuss recent work on the use and limitations of genetic risk scores (GRS) for T2D risk prediction. Recent large-scale, multi-ancestry genetic studies of T2D have identified over 500 novel risk loci. The genetic variants (i.e., single nucleotide polymorphisms (SNPs)) marking these novel loci in general have smaller effect sizes than previously discovered loci. Inclusion of samples from diverse ancestral backgrounds shows a few ancestry specific loci marked by common variants, but overall, the majority of loci discovered are common across ancestries. Inclusion of common variant GRS, even with hundreds of loci, does not substantially increase T2D risk prediction over standard clinical risk factors such as age and family history. Common variant association studies of T2D have now identified over 700 T2D risk loci, half of which have been discovered in the past 3 years. These recent studies demonstrate that inclusion of ancestrally diverse samples can enhance locus discovery and improve accuracy of GRS for T2D risk prediction. GRS based on common variants, however, only minimally enhances risk prediction over standard clinical risk factors.
登录
查看更多内容
影响因子:
2.1
作者:
Márquez-Luna C;Loh PR;South Asian Type 2 Diabetes (SAT2D) Consortium;SIGMA Type 2 Diabetes Consortium;Price AL
通讯作者:
Price AL
影响因子:
7.7
作者:
Lango H;UK Type 2 Diabetes Genetics Consortium;Palmer CN;Morris AD;Zeggini E;Hattersley AT;McCarthy MI;Frayling TM;Weedon MN
通讯作者:
Weedon MN
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)
影响因子:
30.8
作者:
Mahajan A;Taliun D;Thurner M;Robertson NR;Torres JM;Rayner NW;Payne AJ;Steinthorsdottir V;Scott RA;Grarup N;Cook JP;Schmidt EM;Wuttke M;Sarnowski C;Mägi R;Nano J;Gieger C;Trompet S;Lecoeur C;Preuss MH;Prins BP;Guo X;Bielak LF;Below JE;Bowden DW;Chambers JC;Kim YJ;Ng MCY;Petty LE;Sim X;Zhang W;Bennett AJ;Bork-Jensen J;Brummett CM;Canouil M;Ec Kardt KU;Fischer K;Kardia SLR;Kronenberg F;Läll K;Liu CT;Locke AE;Luan J;Ntalla I;Nylander V;Schönherr S;Schurmann C;Yengo L;Bottinger EP;Brandslund I;Christensen C;Dedoussis G;Florez JC;Ford I;Franco OH;Frayling TM;Giedraitis V;Hackinger S;Hattersley AT;Herder C;Ikram MA;Ingelsson M;Jørgensen ME;Jørgensen T;Kriebel J;Kuusisto J;Ligthart S;Lindgren CM;Linneberg A;Lyssenko V;Mamakou V;Meitinger T;Mohlke KL;Morris AD;Nadkarni G;Pankow JS;Peters A;Sattar N;Stančáková A;Strauch K;Taylor KD;Thorand B;Thorleifsson G;Thorsteinsdottir U;Tuomilehto J;Witte DR;Dupuis J;Peyser PA;Zeggini E;Loos RJF;Froguel P;Ingelsson E;Lind L;Groop L;Laakso M;Collins FS;Jukema JW;Palmer CNA;Grallert H;Metspalu A;Dehghan A;Köttgen A;Abecasis GR;Meigs JB;Rotter JI;Marchini J;Pedersen O;Hansen T;Langenberg C;Wareham NJ;Stefansson K;Gloyn AL;Morris AP;Boehnke M;McCarthy MI
通讯作者:
McCarthy MI
影响因子:
16.2
作者:
Hemminki K;Li X;Sundquist K;Sundquist J
通讯作者:
Sundquist J