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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 11951naa a22032533a 4500 | |
| 001 | 19660557 | |
| 003 | SE-LIBR | |
| 005 | 20160906175143.0 | |
| 007 | cr|||||||||||| | |
| 008 | 160906s2015 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1007872 uri |
| 024 | 7 | a urn:nbn:se:umu:diva-1007872 urn |
| 024 | 7 | a 10.1038/ncomms68972 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Wessel, Jennifer4 aut |
| 245 | 1 0 | a Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibilityh [Elektronisk resurs] |
| 260 | c 2015 | |
| 500 | a Published | |
| 506 | 0 | a gratis |
| 520 | a 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 (beta = -0.09 +/- 0.01 mmol l(-1), P = 3.4 x 10(-12)), T2D risk (OR[95% CI] = 0.86[0.76-0.96], P = 0.010), early insulin secretion (beta = -0.07 +/- 0.035 pmol(insulin) mmol(glucose)(-1), P = 0.048), but higher 2-h glucose (beta = 0.16 +/- 0.05 mmol l(-1), P = 4.3 x 10(-4)). We identify a gene-based association with FG at G6PC2 (p(SKAT) = 6.8 x 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 (beta = 0.02 +/- 0.004 mmol l(-1), P = 1.3 x 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility. | |
| 650 | 7 | a Medical and Health Sciences2 hsv |
| 650 | 7 | a Clinical Medicine2 hsv |
| 650 | 7 | a Endocrinology and Diabetes2 hsv |
| 650 | 7 | a Medicin och hälsovetenskap2 hsv |
| 650 | 7 | a Klinisk medicin2 hsv |
| 650 | 7 | a Endokrinologi och diabetes2 hsv |
| 700 | 1 | a Chu, Audrey Y.4 aut |
| 700 | 1 | a Willems, Sara M.4 aut |
| 700 | 1 | a Wang, Shuai4 aut |
| 700 | 1 | a Yaghootkar, Hanieh4 aut |
| 700 | 1 | a Brody, Jennifer A.4 aut |
| 700 | 1 | a Dauriz, Marco4 aut |
| 700 | 1 | a Hivert, Marie-France4 aut |
| 700 | 1 | a Raghavan, Sridharan4 aut |
| 700 | 1 | a Lipovich, Leonard4 aut |
| 700 | 1 | a Hidalgo, Bertha4 aut |
| 700 | 1 | a Fox, Keolu4 aut |
| 700 | 1 | a Huffman, Jennifer E.4 aut |
| 700 | 1 | a An, Ping4 aut |
| 700 | 1 | a Lu, Yingchang4 aut |
| 700 | 1 | a Rasmussen-Torvik, Laura J.4 aut |
| 700 | 1 | a Grarup, Niels4 aut |
| 700 | 1 | a Ehm, Margaret G.4 aut |
| 700 | 1 | a Li, Li4 aut |
| 700 | 1 | a Baldridge, Abigail S.4 aut |
| 700 | 1 | a Stancakova, Alena4 aut |
| 700 | 1 | a Abrol, Ravinder4 aut |
| 700 | 1 | a Besse, Celine4 aut |
| 700 | 1 | a Boland, Anne4 aut |
| 700 | 1 | a Bork-Jensen, Jette4 aut |
| 700 | 1 | a Fornage, Myriam4 aut |
| 700 | 1 | a Freitag, Daniel F.4 aut |
| 700 | 1 | a Garcia, Melissa E.4 aut |
| 700 | 1 | a Guo, Xiuqing4 aut |
| 700 | 1 | a Hara, Kazuo4 aut |
| 700 | 1 | a Isaacs, Aaron4 aut |
| 700 | 1 | a Jakobsdottir, Johanna4 aut |
| 700 | 1 | a Lange, Leslie A.4 aut |
| 700 | 1 | a Layton, Jill C.4 aut |
| 700 | 1 | a Li, Man4 aut |
| 700 | 1 | a Zhao, Jing Hua4 aut |
| 700 | 1 | a Meidtner, Karina4 aut |
| 700 | 1 | a Morrison, Alanna C.4 aut |
| 700 | 1 | a Nalls, Mike A.4 aut |
| 700 | 1 | a Peters, Marjolein J.4 aut |
| 700 | 1 | a Sabater-Lleal, Maria4 aut |
| 700 | 1 | a Schurmann, Claudia4 aut |
| 700 | 1 | a Silveira, Angela4 aut |
| 700 | 1 | a Smith, Albert V.4 aut |
| 700 | 1 | a Southam, Lorraine4 aut |
| 700 | 1 | a Stoiber, Marcus H.4 aut |
| 700 | 1 | a Strawbridge, Rona J.4 aut |
| 700 | 1 | a Taylor, Kent D.4 aut |
| 700 | 1 | a Varga, Tibor V.4 aut |
| 700 | 1 | a Allin, Kristine H.4 aut |
| 700 | 1 | a Amin, Najaf4 aut |
| 700 | 1 | a Aponte, Jennifer L.4 aut |
| 700 | 1 | a Aung, Tin4 aut |
| 700 | 1 | a Barbieri, Caterina4 aut |
| 700 | 1 | a Bihlmeyer, Nathan A.4 aut |
| 700 | 1 | a Boehnke, Michael4 aut |
| 700 | 1 | a Bombieri, Cristina4 aut |
| 700 | 1 | a Bowden, Donald W.4 aut |
| 700 | 1 | a Burns, Sean M.4 aut |
| 700 | 1 | a Chen, Yuning4 aut |
| 700 | 1 | a Chen, Yii-Deri4 aut |
| 700 | 1 | a Cheng, Ching-Yu4 aut |
| 700 | 1 | a Correa, Adolfo4 aut |
| 700 | 1 | a Czajkowski, Jacek4 aut |
| 700 | 1 | a Dehghan, Abbas4 aut |
| 700 | 1 | a Ehret, Georg B.4 aut |
| 700 | 1 | a Eiriksdottir, Gudny4 aut |
| 700 | 1 | a Andersson Escher, Stefan4 aut |
| 700 | 1 | a Farmaki, Aliki-Eleni4 aut |
| 700 | 1 | a Franberg, Mattias4 aut |
| 700 | 1 | a Gambaro, Giovanni4 aut |
| 700 | 1 | a Giulianini, Franco4 aut |
| 700 | 1 | a Goddard, William A., III4 aut |
| 700 | 1 | a Goel, Anuj4 aut |
| 700 | 1 | a Gottesman, Omri4 aut |
| 700 | 1 | a Grove, Megan L.4 aut |
| 700 | 1 | a Gustafsson, Stefan4 aut |
| 700 | 1 | a Hai, Yang4 aut |
| 700 | 1 | a Hallmans, Goeran4 aut |
| 700 | 1 | a Heo, Jiyoung4 aut |
| 700 | 1 | a Hoffmann, Per4 aut |
| 700 | 1 | a Ikram, Mohammad K.4 aut |
| 700 | 1 | a Jensen, Richard A.4 aut |
| 700 | 1 | a Jorgensen, Marit E.4 aut |
| 700 | 1 | a Jorgensen, Torben4 aut |
| 700 | 1 | a Karaleftheri, Maria4 aut |
| 700 | 1 | a Khor, Chiea C.4 aut |
| 700 | 1 | a Kirkpatrick, Andrea4 aut |
| 700 | 1 | a Kraja, Aldi T.4 aut |
| 700 | 1 | a Kuusisto, Johanna4 aut |
| 700 | 1 | a Lange, Ethan M.4 aut |
| 700 | 1 | a Lee, I. T.4 aut |
| 700 | 1 | a Lee, Wen-Jane4 aut |
| 700 | 1 | a Leong, Aaron4 aut |
| 700 | 1 | a Liao, Jiemin4 aut |
| 700 | 1 | a Liu, Chunyu4 aut |
| 700 | 1 | a Liu, Yongmei4 aut |
| 700 | 1 | a Lindgren, Cecilia M.4 aut |
| 700 | 1 | a Linneberg, Allan4 aut |
| 700 | 1 | a Malerba, Giovanni4 aut |
| 700 | 1 | a Mamakou, Vasiliki4 aut |
| 700 | 1 | a Marouli, Eirini4 aut |
| 700 | 1 | a Maruthur, Nisa M.4 aut |
| 700 | 1 | a Matchan, Angela4 aut |
| 700 | 1 | a McKean-Cowdin, Roberta4 aut |
| 700 | 1 | a McLeod, Olga4 aut |
| 700 | 1 | a Metcalf, Ginger A.4 aut |
| 700 | 1 | a Mohlke, Karen L.4 aut |
| 700 | 1 | a Muzny, Donna M.4 aut |
| 700 | 1 | a Ntalla, Ioanna4 aut |
| 700 | 1 | a Palmer, Nicholette D.4 aut |
| 700 | 1 | a Pasko, Dorota4 aut |
| 700 | 1 | a Peter, Andreas4 aut |
| 700 | 1 | a Rayner, Nigel W.4 aut |
| 700 | 1 | a Renstroem, Frida4 aut |
| 700 | 1 | a Rice, Ken4 aut |
| 700 | 1 | a Sala, Cinzia F.4 aut |
| 700 | 1 | a Sennblad, Bengt4 aut |
| 700 | 1 | a Serafetinidis, Ioannis4 aut |
| 700 | 1 | a Smith, Jennifer A.4 aut |
| 700 | 1 | a Soranzo, Nicole4 aut |
| 700 | 1 | a Speliotes, Elizabeth K.4 aut |
| 700 | 1 | a Stahl, Eli A.4 aut |
| 700 | 1 | a Stirrups, Kathleen4 aut |
| 700 | 1 | a Tentolouris, Nikos4 aut |
| 700 | 1 | a Thanopoulou, Anastasia4 aut |
| 700 | 1 | a Torres, Mina4 aut |
| 700 | 1 | a Traglia, Michela4 aut |
| 700 | 1 | a Tsafantakis, Emmanouil4 aut |
| 700 | 1 | a Javad, Sundas4 aut |
| 700 | 1 | a Yanek, Lisa R.4 aut |
| 700 | 1 | a Zengini, Eleni4 aut |
| 700 | 1 | a Becker, Diane M.4 aut |
| 700 | 1 | a Bis, Joshua C.4 aut |
| 700 | 1 | a Brown, James B.4 aut |
| 700 | 1 | a Cupples, L. Adrienne4 aut |
| 700 | 1 | a Hansen, Torben4 aut |
| 700 | 1 | a Ingelsson, Erik4 aut |
| 700 | 1 | a Karter, Andrew J.4 aut |
| 700 | 1 | a Lorenzo, Carlos4 aut |
| 700 | 1 | a Mathias, Rasika A.4 aut |
| 700 | 1 | a Norris, Jill M.4 aut |
| 700 | 1 | a Peloso, Gina M.4 aut |
| 700 | 1 | a Sheu, Wayne H. -H.4 aut |
| 700 | 1 | a Toniolo, Daniela4 aut |
| 700 | 1 | a Vaidya, Dhananjay4 aut |
| 700 | 1 | a Varma, Rohit4 aut |
| 700 | 1 | a Wagenknecht, Lynne E.4 aut |
| 700 | 1 | a Boeing, Heiner4 aut |
| 700 | 1 | a Bottinger, Erwin P.4 aut |
| 700 | 1 | a Dedoussis, George4 aut |
| 700 | 1 | a Deloukas, Panos4 aut |
| 700 | 1 | a Ferrannini, Ele4 aut |
| 700 | 1 | a Franco, Oscar H.4 aut |
| 700 | 1 | a Franks, Paul W.4 aut |
| 700 | 1 | a Gibbs, Richard A.4 aut |
| 700 | 1 | a Gudnason, Vilmundur4 aut |
| 700 | 1 | a Hamsten, Anders4 aut |
| 700 | 1 | a Harris, Tamara B.4 aut |
| 700 | 1 | a Hattersley, Andrew T.4 aut |
| 700 | 1 | a Hayward, Caroline4 aut |
| 700 | 1 | a Hofman, Albert4 aut |
| 700 | 1 | a Jansson, Jan-Håkan4 aut |
| 700 | 1 | a Langenberg, Claudia4 aut |
| 700 | 1 | a Launer, Lenore J.4 aut |
| 700 | 1 | a Levy, Daniel4 aut |
| 700 | 1 | a Oostra, Ben A.4 aut |
| 700 | 1 | a O'Donnell, Christopher J.4 aut |
| 700 | 1 | a O'Rahilly, Stephen4 aut |
| 700 | 1 | a Padmanabhan, Sandosh4 aut |
| 700 | 1 | a Pankow, James S.4 aut |
| 700 | 1 | a Polasek, Ozren4 aut |
| 700 | 1 | a Province, Michael A.4 aut |
| 700 | 1 | a Rich, Stephen S.4 aut |
| 700 | 1 | a Ridker, Paul M.4 aut |
| 700 | 1 | a Rudan, Igor4 aut |
| 700 | 1 | a Schulze, Matthias B.4 aut |
| 700 | 1 | a Smith, Blair H.4 aut |
| 700 | 1 | a Uitterlinden, Andre G.4 aut |
| 700 | 1 | a Walker, Mark4 aut |
| 700 | 1 | a Watkins, Hugh4 aut |
| 700 | 1 | a Wong, Tien Y.4 aut |
| 700 | 1 | a Zeggini, Eleftheria4 aut |
| 700 | 1 | a Laakso, Markku4 aut |
| 700 | 1 | a Borecki, Ingrid B.4 aut |
| 700 | 1 | a Chasman, Daniel I.4 aut |
| 700 | 1 | a Pedersen, Oluf4 aut |
| 700 | 1 | a Psaty, Bruce M.4 aut |
| 700 | 1 | a Tai, E. Shyong4 aut |
| 700 | 1 | a van Duijn, Cornelia M.4 aut |
| 700 | 1 | a Wareham, Nicholas J.4 aut |
| 700 | 1 | a Waterworth, Dawn M.4 aut |
| 700 | 1 | a Boerwinkle, Eric4 aut |
| 700 | 1 | a Kao, W. H. Linda4 aut |
| 700 | 1 | a Florez, Jose C.4 aut |
| 700 | 1 | a Loos, Ruth J. F.4 aut |
| 700 | 1 | a Wilson, James G.4 aut |
| 700 | 1 | a Frayling, Timothy M.4 aut |
| 700 | 1 | a Siscovick, David S.4 aut |
| 700 | 1 | a Dupuis, Josee4 aut |
| 700 | 1 | a Rotter, Jerome I.4 aut |
| 700 | 1 | a Meigs, James B.4 aut |
| 700 | 1 | a Scott, Robert A.4 aut |
| 700 | 1 | a Goodarzi, Mark O.4 aut |
| 700 | 1 | a Sharp, Stephen J.4 aut |
| 700 | 1 | a Forouhi, Nita G.4 aut |
| 700 | 1 | a Kerrison, Nicola D.4 aut |
| 700 | 1 | a Lucarelli, Debora M. E.4 aut |
| 700 | 1 | a Sims, Matt4 aut |
| 700 | 1 | a Barroso, Ines4 aut |
| 700 | 1 | a McCarthy, Mark I.4 aut |
| 700 | 1 | a Arriola, Larraitz4 aut |
| 700 | 1 | a Balkau, Beverley4 aut |
| 700 | 1 | a Barricarte, Aurelio4 aut |
| 700 | 1 | a Gonzalez, Carlos4 aut |
| 700 | 1 | a Grioni, Sara4 aut |
| 700 | 1 | a Kaaks, Rudolf4 aut |
| 700 | 1 | a Key, Timothy J.4 aut |
| 700 | 1 | a Navarro, Carmen4 aut |
| 700 | 1 | a Nilsson, Peter M.4 aut |
| 700 | 1 | a Overvad, Kim4 aut |
| 700 | 1 | a Palli, Domenico4 aut |
| 700 | 1 | a Panico, Salvatore4 aut |
| 700 | 1 | a Quiros, J. Ramon4 aut |
| 700 | 1 | a Rolandsson, Olov4 aut |
| 700 | 1 | a Sacerdote, Carlotta4 aut |
| 700 | 1 | a Sanchez, Maria-Jose4 aut |
| 700 | 1 | a Slimani, Nadia4 aut |
| 700 | 1 | a Tjonneland, Anne4 aut |
| 700 | 1 | a Tumino, Rosario4 aut |
| 700 | 1 | a van der A, Daphne L.4 aut |
| 700 | 1 | a van der Schouw, Yvonne T.4 aut |
| 700 | 1 | a Riboli, Elio4 aut |
| 710 | 1 | a Umeå universitetb Medicinska fakulteten4 pbl0 268483 |
| 710 | 1 | a Umeå universitetb Medicinska fakulteten4 pbl0 268483 |
| 710 | 1 | a Umeå universitetb Medicinska fakulteten4 pbl0 268483 |
| 772 | 1 8 | i channel recordw 18813935 |
| 773 | 0 | i Värdpublikationt Nature Communicationsg 6x 2041-1723 |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-100787 |
| 856 | 4 0 | u http://dx.doi.org/10.1038/ncomms6897 |
| 856 | 4 0 | u http://umu.diva-portal.org/smash/get/diva2:794385/FULLTEXT01 |
| 910 | 2 s | 6 710,710,710a Umeå universitet.b Medicinsk-odontologiska fakultetenu Umeå universitet.b Medicinska fakulteten |
| 910 | 2 s | 6 710,710,710a Medicinska fakulteten vid Umeå universitetu Umeå universitet.b Medicinska fakulteten |
| 841 | 5 APISa x ab 160906||0000|||||001||||||000000e 1 | |
| 024 | 7 | 5 APISa urn:nbn:se:umu:diva-1007872 urn |
| 852 | 5 APISb APIS | |
| 856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-100787 |
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