Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
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低频和稀有的外显子芯片变体与空腹葡萄糖和2型糖尿病敏感性相关。
DOI：
10.1038/ncomms6897
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发表时间：
2015-01-29
影响因子：
16.6
通讯作者：
Riboli, Elio
中科院分区：
文献类型：
--
作者：
Wessel, Jennifer;Chu, Audrey Y.;Willems, Sara M.;Wang, Shuai;Yaghootkar, Hanieh;Brody, Jennifer A.;Dauriz, Marco;Hivert, Marie-France;Raghavan, Sridharan;Lipovich, Leonard;Hidalgo, Bertha;Fox, Keolu;Huffman, Jennifer E.;An, Ping;Lu, Yingchang;Rasmussen-Torvik, Laura J.;Grarup, Niels;Ehm, Margaret G.;Li, Li;Baldridge, Abigail S.;Stancakova, Alena;Abrol, Ravinder;Besse, Celine;Boland, Anne;Bork-Jensen, Jette;Fornage, Myriam;Freitag, Daniel F.;Garcia, Melissa E.;Guo, Xiuqing;Hara, Kazuo;Isaacs, Aaron;Jakobsdottir, Johanna;Lange, Leslie A.;Layton, Jill C.;Li, Man;Zhao, Jing Hua;Meidtner, Karina;Morrison, Alanna C.;Nalls, Mike A.;Peters, Marjolein J.;Sabater-Lleal, Maria;Schurmann, Claudia;Silveira, Angela;Smith, Albert V.;Southam, Lorraine;Stoiber, Marcus H.;Strawbridge, Rona J.;Taylor, Kent D.;Varga, Tibor V.;Allin, Kristine H.;Amin, Najaf;Aponte, Jennifer L.;Aung, Tin;Barbieri, Caterina;Bihlmeyer, Nathan A.;Boehnke, Michael;Bombieri, Cristina;Bowden, Donald W.;Burns, Sean M.;Chen, Yuning;Chen, Yii-Deri;Cheng, Ching-Yu;Correa, Adolfo;Czajkowski, Jacek;Dehghan, Abbas;Ehret, Georg B.;Eiriksdottir, Gudny;Escher, Stefan A.;Farmaki, Aliki-Eleni;Franberg, Mattias;Gambaro, Giovanni;Giulianini, Franco;Goddard, William A., III;Goel, Anuj;Gottesman, Omri;Grove, Megan L.;Gustafsson, Stefan;Hai, Yang;Hallmans, Goeran;Heo, Jiyoung;Hoffmann, Per;Ikram, Mohammad K.;Jensen, Richard A.;Jorgensen, Marit E.;Jorgensen, Torben;Karaleftheri, Maria;Khor, Chiea C.;Kirkpatrick, Andrea;Kraja, Aldi T.;Kuusisto, Johanna;Lange, Ethan M.;Lee, I. T.;Lee, Wen-Jane;Leong, Aaron;Liao, Jiemin;Liu, Chunyu;Liu, Yongmei;Lindgren, Cecilia M.;Linneberg, Allan;Malerba, Giovanni;Mamakou, Vasiliki;Marouli, Eirini;Maruthur, Nisa M.;Matchan, Angela;McKean-Cowdin, Roberta;McLeod, Olga;Metcalf, Ginger A.;Mohlke, Karen L.;Muzny, Donna M.;Ntalla, Ioanna;Palmer, Nicholette D.;Pasko, Dorota;Peter, Andreas;Rayner, Nigel W.;Renstroem, Frida;Rice, Ken;Sala, Cinzia F.;Sennblad, Bengt;Serafetinidis, Ioannis;Smith, Jennifer A.;Soranzo, Nicole;Speliotes, Elizabeth K.;Stahl, Eli A.;Stirrups, Kathleen;Tentolouris, Nikos;Thanopoulou, Anastasia;Torres, Mina;Traglia, Michela;Tsafantakis, Emmanouil;Javad, Sundas;Yanek, Lisa R.;Zengini, Eleni;Becker, Diane M.;Bis, Joshua C.;Brown, James B.;Cupples, L. Adrienne;Hansen, Torben;Ingelsson, Erik;Karter, Andrew J.;Lorenzo, Carlos;Mathias, Rasika A.;Norris, Jill M.;Peloso, Gina M.;Sheu, Wayne H. -H.;Toniolo, Daniela;Vaidya, Dhananjay;Varma, Rohit;Wagenknecht, Lynne E.;Boeing, Heiner;Bottinger, Erwin P.;Dedoussis, George;Deloukas, Panos;Ferrannini, Ele;Franco, Oscar H.;Franks, Paul W.;Gibbs, Richard A.;Gudnason, Vilmundur;Hamsten, Anders;Harris, Tamara B.;Hattersley, Andrew T.;Hayward, Caroline;Hofman, Albert;Jansson, Jan-Hakan;Langenberg, Claudia;Launer, Lenore J.;Levy, Daniel;Oostra, Ben A.;O'Donnell, Christopher J.;O'Rahilly, Stephen;Padmanabhan, Sandosh;Pankow, James S.;Polasek, Ozren;Province, Michael A.;Rich, Stephen S.;Ridker, Paul M.;Rudan, Igor;Schulze, Matthias B.;Smith, Blair H.;Uitterlinden, Andre G.;Walker, Mark;Watkins, Hugh;Wong, Tien Y.;Zeggini, Eleftheria;Laakso, Markku;Borecki, Ingrid B.;Chasman, Daniel I.;Pedersen, Oluf;Psaty, Bruce M.;Tai, E. Shyong;van Duijn, Cornelia M.;Wareham, Nicholas J.;Waterworth, Dawn M.;Boerwinkle, Eric;Kao, W. H. Linda;Florez, Jose C.;Loos, Ruth J. F.;Wilson, James G.;Frayling, Timothy M.;Siscovick, David S.;Dupuis, Josee;Rotter, Jerome I.;Meigs, James B.;Scott, Robert A.;Goodarzi, Mark O.;Sharp, Stephen J.;Forouhi, Nita G.;Kerrison, Nicola D.;Lucarelli, Debora M. E.;Sims, Matt;Barroso, Ines;McCarthy, Mark I.;Arriola, Larraitz;Balkau, Beverley;Barricarte, Aurelio;Gonzalez, Carlos;Grioni, Sara;Kaaks, Rudolf;Key, Timothy J.;Navarro, Carmen;Nilsson, Peter M.;Overvad, Kim;Palli, Domenico;Panico, Salvatore;Quiros, J. Ramon;Rolandsson, Olov;Sacerdote, Carlotta;Sanchez, Maria-Jose;Slimani, Nadia;Tjonneland, Anne;Tumino, Rosario;van der A, Daphne L.;van der Schouw, Yvonne T.;Riboli, Elio
Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=−0.09±0.01 mmol l−1, P=3.4 × 10−12), T2D risk (OR[95%CI]=0.86[0.76–0.96], P=0.010), early insulin secretion (β=−0.07±0.035 pmolinsulin mmolglucose−1, P=0.048), but higher 2-h glucose (β=0.16±0.05 mmol l−1, P=4.3 × 10−4). We identify a gene-based association with FG at G6PC2 (pSKAT=6.8 × 10−6) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF=20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (β=0.02±0.004 mmol l−1, P=1.3 × 10−8). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility. Both rare and common variants contribute to the aetiology of complex traits such as type 2 diabetes (T2D). Here, the authors examine the effect of coding variation on glycaemic traits and T2D, and identify low-frequency variation in GLP1R significantly associated with these traits.
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DOI：
10.1038/ijo.2011.158
发表时间：
2012-06
期刊：
International journal of obesity (2005)
影响因子：
--
作者：
Astrup A;Carraro R;Finer N;Harper A;Kunesova M;Lean ME;Niskanen L;Rasmussen MF;Rissanen A;Rössner S;Savolainen MJ;Van Gaal L;NN8022-1807 Investigators
通讯作者：
NN8022-1807 Investigators
DOI：
10.1139/bcb-79-1-21
发表时间：
2001-02-01
期刊：
BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE
影响因子：
--
作者：
Hemming, R;Agatep, R;Triggs-Raine, B
通讯作者：
Triggs-Raine, B
影响因子：
30.8
作者：
Flannick, Jason;Thorleifsson, Gudmar;Beer, Nicola L.;Jacobs, Suzanne B. R.;Grarup, Niels;Burtt, Noel P.;Mahajan, Anubha;Fuchsberger, Christian;Atzmon, Gil;Benediktsson, Rafn;Blangero, John;Bowden, Don W.;Brandslund, Ivan;Brosnan, Julia;Burslem, Frank;Chambers, John;Cho, Yoon Shin;Christensen, Cramer;Douglas, Desiree A.;Duggirala, Ravindranath;Dymek, Zachary;Farjoun, Yossi;Fennell, Timothy;Fontanillas, Pierre;Forsen, Tom;Gabriel, Stacey;Glaser, Benjamin;Gudbjartsson, Daniel F.;Hanis, Craig;Hansen, Torben;Hreidarsson, Astradur B.;Hveem, Kristian;Ingelsson, Erik;Isomaa, Bo;Johansson, Stefan;Jorgensen, Torben;Jorgensen, Marit Eika;Kathiresan, Sekar;Kong, Augustine;Kooner, Jaspal;Kravic, Jasmina;Laakso, Markku;Lee, Jong-Young;Lind, Lars;Lindgren, Cecilia M.;Linneberg, Allan;Masson, Gisli;Meitinger, Thomas;Mohlke, Karen L.;Molven, Anders;Morris, Andrew P.;Potluri, Shobha;Rauramaa, Rainer;Ribel-Madsen, Rasmus;Richard, Ann-Marie;Rolph, Tim;Salomaa, Veikko;Segre, Ayellet V.;Skaerstrand, Hanna;Steinthorsdottir, Valgerdur;Stringham, Heather M.;Sulem, Patrick;Tai, E. Shyong;Teo, Yik Ying;Teslovich, Tanya;Thorsteinsdottir, Unnur;Trimmer, Jeff K.;Tuomi, Tiinamaija;Tuomilehto, Jaakko;Vaziri-Sani, Fariba;Voight, Benjamin F.;Wilson, James G.;Boehnke, Michael;McCarthy, Mark I.;Njolstad, Pal R.;Pedersen, Oluf;Groop, Leif;Cox, David R.;Stefansson, Kari;Altshuler, David
通讯作者：
Altshuler, David
DOI：
10.1016/j.tem.2012.11.008
发表时间：
2013-02
期刊：
Trends in endocrinology and metabolism: TEM
影响因子：
--
作者：
Dailey MJ;Moran TH
通讯作者：
Moran TH
影响因子：
30.8
作者：
Holmen OL;Zhang H;Fan Y;Hovelson DH;Schmidt EM;Zhou W;Guo Y;Zhang J;Langhammer A;Løchen ML;Ganesh SK;Vatten L;Skorpen F;Dalen H;Zhang J;Pennathur S;Chen J;Platou C;Mathiesen EB;Wilsgaard T;Njølstad I;Boehnke M;Chen YE;Abecasis GR;Hveem K;Willer CJ
通讯作者：
Willer CJ