Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
- 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.
DOIAbstract
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<5×10-7) evidence for two loci not previously highlighted by common variant GWAS: GLP1R (p.Ala316Thr, minor allele frequency (MAF)=1.5%) influencing FG levels, and URB2 (p.Glu594Val, MAF = 0.1%) influencing FI levels. Coding variant associations can highlight potential effector genes at (non-coding) GWAS s...
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