@Article{Gaulton_etal2015,
author="Gaulton, K. J.
and Ferreira, T.
and Lee, Y.
and Raimondo, A.
and Magi, R.
and Reschen, M. E.
and Mahajan, A.
and Locke, A.
and William Rayner, N.
and Robertson, N.
and Scott, R. A.
and Prokopenko, I.
and Scott, L. J.
and Green, T.
and Sparso, T.
and Thuillier, D.
and Yengo, L.
and Grallert, H.
and Wahl, S.
and Franberg, M.
and Strawbridge, R. J.
and Kestler, H.
and Chheda, H.
and Eisele, L.
and Gustafsson, S.
and Steinthorsdottir, V.
and Thorleifsson, G.
and Qi, L.
and Karssen, L. C.
and van Leeuwen, E. M.
and Willems, S. M.
and Li, M.
and Chen, H.
and Fuchsberger, C.
and Kwan, P.
and Ma, C.
and Linderman, M.
and Lu, Y.
and Thomsen, S. K.
and Rundle, J. K.
and Beer, N. L.
and van de Bunt, M.
and Chalisey, A.
and Kang, H. M.
and Voight, B. F.
and Abecasis, G. R.
and Almgren, P.
and Baldassarre, D.
and Balkau, B.
and Benediktsson, R.
and Bluher, M.
and Boeing, H.
and Bonnycastle, L. L.
and Bottinger, E. P.
and Burtt, N. P.
and Carey, J.
and Charpentier, G.
and Chines, P. S.
and Cornelis, M. C.
and Couper, D. J.
and Crenshaw, A. T.
and van Dam, R. M.
and Doney, A. S.
and Dorkhan, M.
and Edkins, S.
and Eriksson, J. G.
and Esko, T.
and Eury, E.
and Fadista, J.
and Flannick, J.
and Fontanillas, P.
and Fox, C.
and Franks, P. W.
and Gertow, K.
and Gieger, C.
and Gigante, B.
and Gottesman, O.
and Grant, G. B.
and Grarup, N.
and Groves, C. J.
and Hassinen, M.
and Have, C. T.
and Herder, C.
and Holmen, O. L.
and Hreidarsson, A. B.
and Humphries, S. E.
and Hunter, D. J.
and Jackson, A. U.
and Jonsson, A.
and Jorgensen, M. E.
and Jorgensen, T.
and Kao, W. H.
and Kerrison, N. D.
and Kinnunen, L.
and Klopp, N.
and Kong, A.
and Kovacs, P.
and Kraft, P.
and Kravic, J.
and Langford, C.
and Leander, K.
and Liang, L.
and Lichtner, P.
and Lindgren, C. M.
and Lindholm, E.
and Linneberg, A.
and Liu, C. T.
and Lobbens, S.
and Luan, J.
and Lyssenko, V.
and Mannisto, S.
and McLeod, O.
and Meyer, J.
and Mihailov, E.
and Mirza, G.
and Muhleisen, T. W.
and Muller-Nurasyid, M.
and Navarro, C.
and Nothen, M. M.
and Oskolkov, N. N.
and Owen, K. R.
and Palli, D.
and Pechlivanis, S.
and Peltonen, L.
and Perry, J. R.
and Platou, C. G.
and Roden, M.
and Ruderfer, D.
and Rybin, D.
and van der Schouw, Y. T.
and Sennblad, B.
and Sigurethsson, G.
and Stancakova, A.
and Steinbach, G.
and Storm, P.
and Strauch, K.
and Stringham, H. M.
and Sun, Q.
and Thorand, B.
and Tikkanen, E.
and Tonjes, A.
and Trakalo, J.
and Tremoli, E.
and Tuomi, T.
and Wennauer, R.
and Wiltshire, S.
and Wood, A. R.
and Zeggini, E.
and Dunham, I.
and Birney, E.
and Pasquali, L.
and Ferrer, J.
and Loos, R. J.
and Dupuis, J.
and Florez, J. C.
and Boerwinkle, E.
and Pankow, J. S.
and van Duijn, C.
and Sijbrands, E.
and Meigs, J. B.
and Hu, F. B.
and Thorsteinsdottir, U.
and Stefansson, K.
and Lakka, T. A.
and Rauramaa, R.
and Stumvoll, M.
and Pedersen, N. L.
and Lind, L.
and Keinanen-Kiukaanniemi, S. M.
and Korpi-Hyovalti, E.
and Saaristo, T. E.
and Saltevo, J.
and Kuusisto, J.
and Laakso, M.
and Metspalu, A.
and Erbel, R.
and Jocke, K. H.
and Moebus, S.
and Ripatti, S.
and Salomaa, V.
and Ingelsson, E.
and Boehm, B. O.
and Bergman, R. N.
and Collins, F. S.
and Mohlke, K. L.
and Koistinen, H.
and Tuomilehto, J.
and Hveem, K.
and Njolstad, I.
and Deloukas, P.
and Donnelly, P. J.
and Frayling, T. M.
and Hattersley, A. T.
and de Faire, U.
and Hamsten, A.
and Illig, T.
and Peters, A.
and Cauchi, S.
and Sladek, R.
and Froguel, P.
and Hansen, T.
and Pedersen, O.
and Morris, A. D.
and Palmer, C. N.
and Kathiresan, S.
and Melander, O.
and Nilsson, P. M.
and Groop, L. C.
and Barroso, I.
and Langenberg, C.
and Wareham, N. J.
and O{\textquoteright}Callaghan, C. A.
and Gloyn, A. L.
and Altshuler, D.
and Boehnke, M.
and Teslovich, T. M.
and McCarthy, M. I.
and Morris, A. P.
and Replication, D. I. A. G.
and Meta-analysis, C.",
title="Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci",
journal="Nat Genet",
year="2015",
address="Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.Department of Genetics, S",
volume="47",
number="12",
pages="1415--1425",
optkeywords="HUNT2; metabochip; Binding Sites; Case-Control Studies; Chromatin Immunoprecipitation; *Chromosome Mapping; Diabetes Mellitus; Type 2/*genetics; Gene Expression Regulation; *Genetic Loci; *Genetic Predisposition to Disease; Genome-Wide Association Study; Genomics; Hepatocyte Nuclear Factor 3-beta/*genetics/metabolism; Humans; Islets of Langerhans/metabolism/pathology; Liver/metabolism/pathology; Molecular Sequence Annotation; Polymorphism; Single Nucleotide/*genetics; Receptor; Melatonin; MT2/*genetics/metabolism",
abstract="We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. {\textquoteright}Credible sets{\textquoteright} of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.",
optnote="Gaulton, Kyle JFerreira, TeresaLee, YejiRaimondo, AnneMagi, ReedikReschen, Michael EMahajan, AnubhaLocke, AdamWilliam Rayner, NRobertson, NeilScott, Robert AProkopenko, IngaScott, Laura JGreen, ToddSparso, ThomasThuillier, DorotheeYengo, LoicGrallert, HaraldWahl, SimoneFranberg, MattiasStrawbridge, Rona JKestler, HansChheda, HimanshuEisele, LewinGustafsson, StefanSteinthorsdottir, ValgerdurThorleifsson, GudmarQi, LuKarssen, Lennart Cvan Leeuwen, Elisabeth MWillems, Sara MLi, ManChen, HanFuchsberger, ChristianKwan, PhoenixMa, ClementLinderman, MichaelLu, YingchangThomsen, Soren KRundle, Jana KBeer, Nicola Lvan de Bunt, MartijnChalisey, AnilKang, Hyun MinVoight, Benjamin FAbecasis, Goncalo RAlmgren, PeterBaldassarre, DamianoBalkau, BeverleyBenediktsson, RafnBluher, MatthiasBoeing, HeinerBonnycastle, Lori LBottinger, Erwin PBurtt, Noel PCarey, JasonCharpentier, GuillaumeChines, Peter SCornelis, Marilyn CCouper, David JCrenshaw, Andrew Tvan Dam, Rob MDoney, Alex S FDorkhan, MozhganEdkins, SarahEriksson, Johan GEsko, TonuEury, ElodieFadista, JoaoFlannick, JasonFontanillas, PierreFox, CarolineFranks, Paul WGertow, KarlGieger, ChristianGigante, BrunaGottesman, OmriGrant, George BGrarup, NielsGroves, Christopher JHassinen, MaijaHave, Christian THerder, ChristianHolmen, Oddgeir LHreidarsson, Astradur BHumphries, Steve EHunter, David JJackson, Anne UJonsson, AnnaJorgensen, Marit EJorgensen, TorbenKao, Wen-Hong LKerrison, Nicola DKinnunen, LeenaKlopp, NormanKong, AugustineKovacs, PeterKraft, PeterKravic, JasminaLangford, CordeliaLeander, KarinLiang, LimingLichtner, PeterLindgren, Cecilia MLindholm, EeroLinneberg, AllanLiu, Ching-TiLobbens, StephaneLuan, Jian{\textquoteright}anLyssenko, ValeriyaMannisto, SatuMcLeod, OlgaMeyer, JuliaMihailov, EvelinMirza, GhazalaMuhleisen, Thomas WMuller-Nurasyid, MartinaNavarro, CarmenNothen, Markus MOskolkov, Nikolay NOwen, Katharine RPalli, DomenicoPechlivanis, SonaliPeltonen, LeenaPerry, John R BPlatou, Carl G PRoden, MichaelRuderfer, DouglasRybin, Denisvan der Schouw, Yvonne TSennblad, BengtSigurethsson, GunnarStancakova, AlenaSteinbach, GeraldStorm, PetterStrauch, KonstantinStringham, Heather MSun, QiThorand, BarbaraTikkanen, EmmiTonjes, AnkeTrakalo, JosephTremoli, ElenaTuomi, TiinamaijaWennauer, RomanWiltshire, StevenWood, Andrew RZeggini, EleftheriaDunham, IanBirney, EwanPasquali, LorenzoFerrer, JorgeLoos, Ruth J FDupuis, JoseeFlorez, Jose CBoerwinkle, EricPankow, James Svan Duijn, CorneliaSijbrands, EricMeigs, James BHu, Frank BThorsteinsdottir, UnnurStefansson, KariLakka, Timo ARauramaa, RainerStumvoll, MichaelPedersen, Nancy LLind, LarsKeinanen-Kiukaanniemi, Sirkka MKorpi-Hyovalti, EevaSaaristo, Timo ESaltevo, JuhaKuusisto, JohannaLaakso, MarkkuMetspalu, AndresErbel, RaimundJocke, Karl-HeinzMoebus, SusanneRipatti, SamuliSalomaa, VeikkoIngelsson, ErikBoehm, Bernhard OBergman, Richard NCollins, Francis SMohlke, Karen LKoistinen, HeikkiTuomilehto, JaakkoHveem, KristianNjolstad, IngerDeloukas, PanagiotisDonnelly, Peter JFrayling, Timothy MHattersley, Andrew Tde Faire, UlfHamsten, AndersIllig, ThomasPeters, AnnetteCauchi, StephaneSladek, RobFroguel, PhilippeHansen, TorbenPedersen, OlufMorris, Andrew DPalmer, Collin N AKathiresan, SekarMelander, OlleNilsson, Peter MGroop, Leif CBarroso, InesLangenberg, ClaudiaWareham, Nicholas JO{\textquoteright}Callaghan, Christopher AGloyn, Anna LAltshuler, DavidBoehnke, MichaelTeslovich, Tanya MMcCarthy, Mark IMorris, Andrew P(DIAGRAM)eng098395/Wellcome Trust/United KingdomHHSN268201100005C/HL/NHLBI NIH HHS/HHSN268201100006C/HL/NHLBI NIH HHS/HHSN268201100007C/HL/NHLBI NIH HHS/HHSN268201100008C/HL/NHLBI NIH HHS/HHSN268201100009C/HL/NHLBI NIH HHS/HHSN268201100010C/HL/NHLBI NIH HHS/HHSN268201100011C/HL/NHLBI NIH HHS/HHSN268201100012C/HL/NHLBI NIH HHS/K24 DK080140/DK/NIDDK NIH HHS/N01 HC025195/HC/NHLBI NIH HHS/N01 HG065403/HG/NHGRI NIH HHS/N02 HL64278/HL/NHLBI NIH HHS/R01 AG010175/AG/NIA NIH HHS/R01 DK062370/DK/NIDDK NIH HHS/R01 DK072193/DK/NIDDK NIH HHS/R01 DK073490/DK/NIDDK NIH HHS/R01 DK078616/DK/NIDDK NIH HHS/R01 DK098032/DK/NIDDK NIH HHS/R01 HL059367/HL/NHLBI NIH HHS/R01 HL086694/HL/NHLBI NIH HHS/R01 HL087641/HL/NHLBI NIH HHS/U01 DK085526/DK/NIDDK NIH HHS/U01 DK085545/DK/NIDDK NIH HHS/U01 HG004399/HG/NHGRI NIH HHS/U01 HG004402/HG/NHGRI NIH HHS/UL1 RR025005/RR/NCRR NIH HHS/Z01 HG000024-13/Intramural NIH HHS/2015/11/10 06:00Nat Genet. 2015 Dec;47(12):1415-25. doi: 10.1038/ng.3437. Epub 2015 Nov 9.",
optnote="exported from refbase (http://vev.medisin.ntnu.no/refbase/show.php?record=1810), last updated on Thu, 11 Aug 2016 12:42:25 +0200",
doi="10.1038/ng.3437",
opturl="http://www.ncbi.nlm.nih.gov/pubmed/26551672",
opturl="https://doi.org/10.1038/ng.3437"
}