جهت دسترسی به کاربرگه ی زیر، از این لینک استفاده کنید. http://192.168.1.35:80/jspui/handle/Hannan/8860
Title: Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
Authors: 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;Stančáková, Alena;Abrol, Ravinder;Besse, Céline;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;Hua Zhao, Jing;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;Frånberg, Mattias;Gambaro, Giovanni;Giulianini, Franco;Goddard, William A;Goel, Anuj;Gottesman, Omri;Grove, Megan L;Gustafsson, Stefan;Hai, Yang;Hallmans, Göran;Heo, Jiyoung;Hoffmann, Per;Ikram, Mohammad K;Jensen, Richard A;Jørgensen, Marit E;Jørgensen, 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;Renström, 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;Adrienne Cupples, L;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-Håkan;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, André G;Walker, Mark;Watkins, Hugh;Wong, Tien Y;Zeggini, Eleftheria;Sharp, Stephen J;Forouhi, Nita G;Kerrison, Nicola D;Lucarelli, Debora ME;Sims, Matt;Barroso, Inês;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;Quirós, J. Ramón;Rolandsson, Olov;Sacerdote, Carlotta;Sánchez, María–José;Slimani, Nadia;Tjonneland, Anne;Tumino, Rosario;van der A, Daphne L;van der Schouw, Yvonne T;Riboli, Elio;Laakso, Markku;Borecki, Ingrid B;Chasman, Daniel I;Pedersen, Oluf;Psaty, Bruce M;Shyong Tai, E;van Duijn, Cornelia M;Wareham, Nicholas J;Waterworth, Dawn M;Boerwinkle, Eric;Linda Kao, W H;Florez, Jose C;Loos, Ruth J.F.;Wilson, James G;Frayling, Timothy M;Siscovick, David S;Dupuis, Josée;Rotter, Jerome I;Meigs, James B;Scott, Robert A;Goodarzi, Mark O
Issue Date: 2015
Publisher: Nature Pub. Group
Description: 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.
URI: http://192.168.1.35:80/jspui/handle/Hannan/8860
Other Identifiers: Wessel, J., A. Y. Chu, S. M. Willems, S. Wang, H. Yaghootkar, J. A. Brody, M. Dauriz, et al. 2015. “Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.” Nature Communications 6 (1): 5897. doi:10.1038/ncomms6897. http://dx.doi.org/10.1038/ncomms6897.
2041-1723
http://nrs.harvard.edu/urn-3:HUL.InstRepos:14351066
Type Of Material: Journal Article
Appears in Collections:Harvard Medical School

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