Article
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
PLoS genetics - 1 Jan 2015
Mahajan Anubha, Sim Xueling, Ng Hui Jin, Manning Alisa, Rivas Manuel A, Highland Heather M, Locke Adam E, Grarup Niels, Im Hae Kyung, Cingolani Pablo, Flannick Jason, Fontanillas Pierre, Fuchsberger Christian, Gaulton Kyle J, Teslovich Tanya M, Rayner N William, Robertson Neil R, Beer Nicola L, Rundle Jana K, Bork-Jensen Jette, Ladenvall Claes, Blancher Christine, Buck David, Buck Gemma, Burtt Noël P, Gabriel Stacey, Gjesing Anette P, Groves Christopher J, Hollensted Mette, Huyghe Jeroen R, Jackson Anne U, Jun Goo, Justesen Johanne Marie, Mangino Massimo, Murphy Jacquelyn, Neville Matt, Onofrio Robert, Small Kerrin S, Stringham Heather M, Syvänen Ann-Christine, Trakalo Joseph, Abecasis Goncalo, Bell Graeme I, Blangero John, Cox Nancy J, Duggirala Ravindranath, Hanis Craig L, Seielstad Mark, Wilson James G, Christensen Cramer, Brandslund Ivan, Rauramaa Rainer, Surdulescu Gabriela L, Doney Alex S F, Lannfelt Lars, Linneberg Allan, Isomaa Bo, Tuomi Tiinamaija, Jørgensen Marit E, Jørgensen Torben, Kuusisto Johanna, Uusitupa Matti, Salomaa Veikko, Spector Timothy D, Morris Andrew D, Palmer Colin N A, Collins Francis S, Mohlke Karen L, Bergman Richard N, Ingelsson Erik, Lind Lars, Tuomilehto Jaakko, Hansen Torben, Watanabe Richard M, Prokopenko Inga, Dupuis Josee, Karpe Fredrik, Groop Leif, Laakso Markku, Pedersen Oluf, Florez Jose C, Morris Andrew P, Altshuler David, Meigs James B, Boehnke Michael, McCarthy Mark I, Lindgren Cecilia M, Gloyn Anna L
Abstract excerpt
Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contribute substantially to unexplained genetic variance. To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We...
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