Article
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Diabetologia - 1 Feb 2013
Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim S Y, Korneliussen T, Li Q, Nie C, Wu R, Skotte L, Morris A P, Ladenvall C, Cauchi S, Stančáková A, Andersen G, Astrup A, Banasik K, Bennett A J, Bolund L, Charpentier G, Chen Y, Dekker J M, Doney A S F, Dorkhan M, Forsen T, Frayling T M, Groves C J, Gui Y, Hallmans G, Hattersley A T, He K, Hitman G A, Holmkvist J, Huang S, Jiang H, Jin X, Justesen J M, Kristiansen K, Kuusisto J, Lajer M, Lantieri O, Li W, Liang H, Liao Q, Liu X, Ma T, Ma X, Manijak M P, Marre M, Mokrosiński J, Morris A D, Mu B, Nielsen A A, Nijpels G, Nilsson P, Palmer C N A, Rayner N W, Renström F, Ribel-Madsen R, Robertson N, Rolandsson O, Rossing P, Schwartz T W, Slagboom P E, Sterner M, Tang M, Tarnow L, Tuomi T, van't Riet E, van Leeuwen N, Varga T V, Vestmar M A, Walker M, Wang B, Wang Y, Wu H, Xi F, Yengo L, Yu C, Zhang X, Zhang J, Zhang Q, Zhang W, Zheng H, Zhou Y, Altshuler D, 't Hart L M, Franks P W, Balkau B, Froguel P, McCarthy M I, Laakso M, Groop L, Christensen C, Brandslund I, Lauritzen T, Witte D R, Linneberg A, Jørgensen T, Hansen T, Wang J, Nielsen R, Pedersen O
Abstract excerpt
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/m(2) and...
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