Sökning: WFRF:(Farmaki Aliki Eleni) > (2015) > Low-frequency and r...
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 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Kopiera och spara länken för att återkomma till aktuell vy