학술논문
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Document Type
article
Author
Anubha Mahajan; Xueling Sim; Hui Jin Ng; Alisa Manning; Manuel A Rivas; Heather M Highland; Adam E Locke; Niels Grarup; Hae Kyung Im; Pablo Cingolani; Jason Flannick; Pierre Fontanillas; Christian Fuchsberger; Kyle J Gaulton; Tanya M Teslovich; N William Rayner; Neil R Robertson; Nicola L Beer; Jana K Rundle; Jette Bork-Jensen; Claes Ladenvall; Christine Blancher; David Buck; Gemma Buck; Noël P Burtt; Stacey Gabriel; Anette P Gjesing; Christopher J Groves; Mette Hollensted; Jeroen R Huyghe; Anne U Jackson; Goo Jun; Johanne Marie Justesen; Massimo Mangino; Jacquelyn Murphy; Matt Neville; Robert Onofrio; Kerrin S Small; Heather M Stringham; Ann-Christine Syvänen; Joseph Trakalo; Goncalo Abecasis; Graeme I Bell; John Blangero; Nancy J Cox; Ravindranath Duggirala; Craig L Hanis; Mark Seielstad; James G Wilson; Cramer Christensen; Ivan Brandslund; Rainer Rauramaa; Gabriela L Surdulescu; Alex S F Doney; Lars Lannfelt; Allan Linneberg; Bo Isomaa; Tiinamaija Tuomi; Marit E Jørgensen; Torben Jørgensen; Johanna Kuusisto; Matti Uusitupa; Veikko Salomaa; Timothy D Spector; Andrew D Morris; Colin N A Palmer; Francis S Collins; Karen L Mohlke; Richard N Bergman; Erik Ingelsson; Lars Lind; Jaakko Tuomilehto; Torben Hansen; Richard M Watanabe; Inga Prokopenko; Josee Dupuis; Fredrik Karpe; Leif Groop; Markku Laakso; Oluf Pedersen; Jose C Florez; Andrew P Morris; David Altshuler; James B Meigs; Michael Boehnke; Mark I McCarthy; Cecilia M Lindgren; Anna L Gloyn; T2D-GENES consortium and GoT2D consortium
Source
PLoS Genetics, Vol 11, Iss 1, p e1004876 (2015)
Subject
Language
English
ISSN
1553-7390
1553-7404
1553-7404
Abstract
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 found exome-wide significant (P