作者
Anders Albrechtsen, Niels Grarup, Y Li, T Sparsø, G Tian, H Cao, Tao Jiang, SY Kim, T Korneliussen, Q Li, C Nie, Rui Wu, Line Skotte, AP Morris, Claes Ladenvall, S Cauchi, A Stančáková, G Andersen, A Astrup, Karina Banasik, AJ Bennett, Lars Bolund, G Charpentier, Yingke Chen, JM Dekker, ASF Doney, Mozhgan Dorkhan, T Forsen, TM Frayling, CJ Groves, Y Gui, Göran Hallmans, AT Hattersley, K He, GA Hitman, J Holmkvist, Shaojun Huang, Hao Jiang, X Jin, JM Justesen, K Kristiansen, J Kuusisto, Marianne Lajer, O Lantieri, W Li, Hong Liang, Q Liao, X Liu, T Ma, X Ma, MP Manijak, M Marre, J Mokrosiński, AD Morris, B Mu, AA Nielsen, G Nijpels, Peter Nilsson, CNA Palmer, NW Rayner, F Renström, R Ribel-Madsen, N Robertson, Olov Rolandsson, P Rossing, TW Schwartz, PE Slagboom, Maria Sterner, DESIR Study Group, M Tang, L Tarnow, DIAGRAM Consortium, T Tuomi, E Van’t Riet, N van Leeuwen, TV Varga, MA Vestmar, M Walker, B Wang, Y Wang, H Wu, F Xi, L Yengo, C Yu, X Zhang, J Zhang, Q Zhang, W Zhang, H Zheng, Y Zhou, D Altshuler, LM ‘t Hart, PW Franks, B Balkau, P Froguel, MI McCarthy, M Laakso, L Groop, C Christensen, I Brandslund, T Lauritzen, DR Witte, A Linneberg, T Jørgensen, T Hansen, J Wang, R Nielsen, O Pedersen
发表日期
2013/2
期刊
Diabetologia
卷号
56
页码范围
298-310
出版商
Springer-Verlag
简介
Aims/hypothesis
Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes.
Methods
The study comprised three stages. We performed medium-depth (8×) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI >27.5 kg/m2 and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p < 0.05) with case–control status, from four selected annotation categories or from loci reported to associate with metabolic traits. These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). In stage 3, polymorphisms showing potential associations were genotyped in a …
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A Albrechtsen, N Grarup, Y Li, T Sparsø, G Tian, H Cao… - Diabetologia, 2013