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Author (up) Dastani, Z.; Hivert, M.-F.; Timpson, N.; Perry, J.R.B.; Yuan, X.; Scott, R.A.; Henneman, P.; Heid, I.M.; Kizer, J.R.; Lyytikainen, L.-P.; Fuchsberger, C.; Tanaka, T.; Morris, A.P.; Small, K.; Isaacs, A.; Beekman, M.; Coassin, S.; Lohman, K.; Qi, L.; Kanoni, S.; Pankow, J.S.; Uh, H.-W.; Wu, Y.; Bidulescu, A.; Rasmussen-Torvik, L.J.; Greenwood, C.M.T.; Ladouceur, M.; Grimsby, J.; Manning, A.K.; Liu, C.-T.; Kooner, J.; Mooser, V.E.; Vollenweider, P.; Kapur, K.A.; Chambers, J.; Wareham, N.J.; Langenberg, C.; Frants, R.; Willems-Vandijk, K.; Oostra, B.A.; Willems, S.M.; Lamina, C.; Winkler, T.W.; Psaty, B.M.; Tracy, R.P.; Brody, J.; Chen, I.; Viikari, J.; Kahonen, M.; Pramstaller, P.P.; Evans, D.M.; St Pourcain, B.; Sattar, N.; Wood, A.R.; Bandinelli, S.; Carlson, O.D.; Egan, J.M.; Bohringer, S.; van Heemst, D.; Kedenko, L.; Kristiansson, K.; Nuotio, M.-L.; Loo, B.-M.; Harris, T.; Garcia, M.; Kanaya, A.; Haun, M.; Klopp, N.; Wichmann, H.-E.; Deloukas, P.; Katsareli, E.; Couper, D.J.; Duncan, B.B.; Kloppenburg, M.; Adair, L.S.; Borja, J.B.; Wilson, J.G.; Musani, S.; Guo, X.; Johnson, T.; Semple, R.; Teslovich, T.M.; Allison, M.A.; Redline, S.; Buxbaum, S.G.; Mohlke, K.L.; Meulenbelt, I.; Ballantyne, C.M.; Dedoussis, G.V.; Hu, F.B.; Liu, Y.; Paulweber, B.; Spector, T.D.; Slagboom, P.E.; Ferrucci, L.; Jula, A.; Perola, M.; Raitakari, O.; Florez, J.C.; Salomaa, V.; Eriksson, J.G.; Frayling, T.M.; Hicks, A.A.; Lehtimaki, T.; Smith, G.D.; Siscovick, D.S.; Kronenberg, F.; van Duijn, C.; Loos, R.J.F.; Waterworth, D.M.; Meigs, J.B.; Dupuis, J.; Richards, J.B.; Voight, B.F.; Scott, L.J.; Steinthorsdottir, V.; Dina, C.; Welch, R.P.; Zeggini, E.; Huth, C.; Aulchenko, Y.S.; Thorleifsson, G.; McCulloch, L.J.; Ferreira, T.; Grallert, H.; Amin, N.; Wu, G.; Willer, C.J.; Raychaudhuri, S.; McCarroll, S.A.; Hofmann, O.M.; Segre, A.V.; van Hoek, M.; Navarro, P.; Ardlie, K.; Balkau, B.; Benediktsson, R.; Bennett, A.J.; Blagieva, R.; Boerwinkle, E.; Bonnycastle, L.L.; Bostrom, K.B.; Bravenboer, B.; Bumpstead, S.; Burtt, N.P.; Charpentier, G.; Chines, P.S.; Cornelis, M.; Crawford, G.; Doney, A.S.F.; Elliott, K.S.; Elliott, A.L.; Erdos, M.R.; Fox, C.S.; Franklin, C.S.; Ganser, M.; Gieger, C.; Grarup, N.; Green, T.; Griffin, S.; Groves, C.J.; Guiducci, C.; Hadjadj, S.; Hassanali, N.; Herder, C.; Isomaa, B.; Jackson, A.U.; Johnson, P.R.V.; Jorgensen, T.; Kao, W.H.L.; Kong, A.; Kraft, P.; Kuusisto, J.; Lauritzen, T.; Li, M.; Lieverse, A.; Lindgren, C.M.; Lyssenko, V.; Marre, M.; Meitinger, T.; Midthjell, K.; Morken, M.A.; Narisu, N.; Nilsson, P.; Owen, K.R.; Payne, F.; Petersen, A.-K.; Platou, C.; Proenca, C.; Prokopenko, I.; Rathmann, W.; Rayner, N.W.; Robertson, N.R.; Rocheleau, G.; Roden, M.; Sampson, M.J.; Saxena, R.; Shields, B.M.; Shrader, P.; Sigurdsson, G.; Sparso, T.; Strassburger, K.; Stringham, H.M.; Sun, Q.; Swift, A.J.; Thorand, B.; Tichet, J.; Tuomi, T.; van Dam, R.M.; van Haeften, T.W.; van Herpt, T.; van Vliet-Ostaptchouk, J.V.; Walters, G.B.; Weedon, M.N.; Wijmenga, C.; Witteman, J.; Bergman, R.N.; Cauchi, S.; Collins, F.S.; Gloyn, A.L.; Gyllensten, U.; Hansen, T.; Hide, W.A.; Hitman, G.A.; Hofman, A.; Hunter, D.J.; Hveem, K.; Laakso, M.; Morris, A.D.; Palmer, C.N.A.; Rudan, I.; Sijbrands, E.; Stein, L.D.; Tuomilehto, J.; Uitterlinden, A.; Walker, M.; Watanabe, R.M.; Abecasis, G.R.; Boehm, B.O.; Campbell, H.; Daly, M.J.; Hattersley, A.T.; Pedersen, O.; Barroso, I.; Groop, L.; Sladek, R.; Thorsteinsdottir, U.; Wilson, J.F.; Illig, T.; Froguel, P.; van Duijn, C.M.; Stefansson, K.; Altshuler, D.; Boehnke, M.; McCarthy, M.I.; Soranzo, N.; Wheeler, E.; Glazer, N.L.; Bouatia-Naji, N.; Magi, R.; Randall, J.; Elliott, P.; Rybin, D.; Dehghan, A.; Hottenga, J.J.; Song, K.; Goel, A.; Lajunen, T.; Doney, A.; Cavalcanti-Proenca, C.; Kumari, M.; Timpson, N.J.; Zabena, C.; Ingelsson, E.; An, P.; O'Connell, J.; Luan, J.'an; Elliott, A.; McCarroll, S.A.; Roccasecca, R.M.; Pattou, F.; Sethupathy, P.; Ariyurek, Y.; Barter, P.; Beilby, J.P.; Ben-Shlomo, Y.; Bergmann, S.; Bochud, M.; Bonnefond, A.; Borch-Johnsen, K.; Bottcher, Y.; Brunner, E.; Bumpstead, S.J.; Chen, Y.-D.I.; Chines, P.; Clarke, R.; Coin, L.J.M.; Cooper, M.N.; Crisponi, L.; Day, I.N.M.; de Geus, E.J.C.; Delplanque, J.; Fedson, A.C.; Fischer-Rosinsky, A.; Forouhi, N.G.; Franzosi, M.G.; Galan, P.; Goodarzi, M.O.; Graessler, J.; Grundy, S.; Gwilliam, R.; Hallmans, G.; Hammond, N.; Han, X.; Hartikainen, A.-L.; Hayward, C.; Heath, S.C.; Hercberg, S.; Hillman, D.R.; Hingorani, A.D.; Hui, J.; Hung, J.; Kaakinen, M.; Kaprio, J.; Kesaniemi, Y.A.; Kivimaki, M.; Knight, B.; Koskinen, S.; Kovacs, P.; Kyvik, K.O.; Lathrop, G.M.; Lawlor, D.A.; Le Bacquer, O.; Lecoeur, C.; Li, Y.; Mahley, R.; Mangino, M.; Martinez-Larrad, M.T.; McAteer, J.B.; McPherson, R.; Meisinger, C.; Melzer, D.; Meyre, D.; Mitchell, B.D.; Mukherjee, S.; Naitza, S.; Neville, M.J.; Orru, M.; Pakyz, R.; Paolisso, G.; Pattaro, C.; Pearson, D.; Peden, J.F.; Pedersen, N.L.; Pfeiffer, A.F.H.; Pichler, I.; Polasek, O.; Posthuma, D.; Potter, S.C.; Pouta, A.; Province, M.A.; Rayner, N.W.; Rice, K.; Ripatti, S.; Rivadeneira, F.; Rolandsson, O.; Sandbaek, A.; Sandhu, M.; Sanna, S.; Sayer, A.A.; Scheet, P.; Seedorf, U.; Sharp, S.J.; Shields, B.; Sigurethsson, G.; Sijbrands, E.J.G.; Silveira, A.; Simpson, L.; Singleton, A.; Smith, N.L.; Sovio, U.; Swift, A.; Syddall, H.; Syvanen, A.-C.; Tonjes, A.; Uitterlinden, A.G.; van Dijk, K.W.; Varma, D.; Visvikis-Siest, S.; Vitart, V.; Vogelzangs, N.; Waeber, G.; Wagner, P.J.; Walley, A.; Ward, K.L.; Watkins, H.; Wild, S.H.; Willemsen, G.; Witteman, J.C.M.; Yarnell, J.W.G.; Zelenika, D.; Zethelius, B.; Zhai, G.; Zhao, J.H.; Zillikens, M.C.; Borecki, I.B.; Meneton, P.; Magnusson, P.K.E.; Nathan, D.M.; Williams, G.H.; Silander, K.; Bornstein, S.R.; Schwarz, P.; Spranger, J.; Karpe, F.; Shuldiner, A.R.; Cooper, C.; Serrano-Rios, M.; Lind, L.; Palmer, L.J.; Hu, F.B. 1st; Franks, P.W.; Ebrahim, S.; Marmot, M.; Kao, W.H.L.; Pramstaller, P.P.; Wright, A.F.; Stumvoll, M.; Hamsten, A.; Buchanan, T.A.; Valle, T.T.; Rotter, J.I.; Penninx, B.W.J.H.; Boomsma, D.I.; Cao, A.; Scuteri, A.; Schlessinger, D.; Uda, M.; Ruokonen, A.; Jarvelin, M.-R.; Peltonen, L.; Mooser, V.; Sladek, R.; Musunuru, K.; Smith, A.V.; Edmondson, A.C.; Stylianou, I.M.; Koseki, M.; Pirruccello, J.P.; Chasman, D.I.; Johansen, C.T.; Fouchier, S.W.; Peloso, G.M.; Barbalic, M.; Ricketts, S.L.; Bis, J.C.; Feitosa, M.F.; Orho-Melander, M.; Melander, O.; Li, X.; Li, M.; Cho, Y.S.; Go, M.J.; Kim, Y.J.; Lee, J.-Y.; Park, T.; Kim, K.; Sim, X.; Ong, R.T.-H.; Croteau-Chonka, D.C.; Lange, L.A.; Smith, J.D.; Ziegler, A.; Zhang, W.; Zee, R.Y.L.; Whitfield, J.B.; Thompson, J.R.; Surakka, I.; Spector, T.D.; Smit, J.H.; Sinisalo, J.; Scott, J.; Saharinen, J.; Sabatti, C.; Rose, L.M.; Roberts, R.; Rieder, M.; Parker, A.N.; Pare, G.; O'Donnell, C.J.; Nieminen, M.S.; Nickerson, D.A.; Montgomery, G.W.; McArdle, W.; Masson, D.; Martin, N.G.; Marroni, F.; Lucas, G.; Luben, R.; Lokki, M.-L.; Lettre, G.; Launer, L.J.; Lakatta, E.G.; Laaksonen, R.; Kyvik, K.O.; Konig, I.R.; Khaw, K.-T.; Kaplan, L.M.; Johansson, A.; Janssens, A.C.J.W.; Igl, W.; Hovingh, G.K.; Hengstenberg, C.; Havulinna, A.S.; Hastie, N.D.; Harris, T.B.; Haritunians, T.; Hall, A.S.; Groop, L.C.; Gonzalez, E.; Freimer, N.B.; Erdmann, J.; Ejebe, K.G.; Doring, A.; Dominiczak, A.F.; Demissie, S.; Deloukas, P.; de Faire, U.; Crawford, G.; Chen, Y.-der I.; Caulfield, M.J.; Boekholdt, S.M.; Assimes, T.L.; Quertermous, T.; Seielstad, M.; Wong, T.Y.; Tai, E.-S.; Feranil, A.B.; Kuzawa, C.W.; Taylor, H.A.J.; Gabriel, S.B.; Holm, H.; Gudnason, V.; Krauss, R.M.; Ordovas, J.M.; Munroe, P.B.; Kooner, J.S.; Tall, A.R.; Hegele, R.A.; Kastelein, J.J.P.; Schadt, E.E.; Strachan, D.P.; Reilly, M.P.; Samani, N.J.; Schunkert, H.; Cupples, L.A.; Sandhu, M.S.; Ridker, P.M.; Rader, D.J.; Kathiresan, S. url  doi
  Title Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals Type Journal Article
  Year 2012 Publication PLoS Genetics Abbreviated Journal PLoS Genet  
  Volume 8 Issue 3 Pages e1002607  
  Keywords Adiponectin/*blood/genetics; African Americans; Asian Continental Ancestry Group; Cholesterol, HDL/genetics; Diabetes Mellitus, Type 2/*genetics; European Continental Ancestry Group; Female; Gene Expression; Genetic Predisposition to Disease; *Genome-Wide Association Study; Glucose Tolerance Test; Humans; Insulin Resistance/genetics; Male; Metabolic Networks and Pathways; Polymorphism, Single Nucleotide; Waist-Hip Ratio  
  Abstract Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a meta-analysis of genome-wide association studies in 39,883 individuals of European ancestry to identify genes associated with metabolic disease. We identified 8 novel loci associated with adiponectin levels and confirmed 2 previously reported loci (P = 4.5x10(-8)-1.2x10(-43)). Using a novel method to combine data across ethnicities (N = 4,232 African Americans, N = 1,776 Asians, and N = 29,347 Europeans), we identified two additional novel loci. Expression analyses of 436 human adipocyte samples revealed that mRNA levels of 18 genes at candidate regions were associated with adiponectin concentrations after accounting for multiple testing (p<3x10(-4)). We next developed a multi-SNP genotypic risk score to test the association of adiponectin decreasing risk alleles on metabolic traits and diseases using consortia-level meta-analytic data. This risk score was associated with increased risk of T2D (p = 4.3x10(-3), n = 22,044), increased triglycerides (p = 2.6x10(-14), n = 93,440), increased waist-to-hip ratio (p = 1.8x10(-5), n = 77,167), increased glucose two hours post oral glucose tolerance testing (p = 4.4x10(-3), n = 15,234), increased fasting insulin (p = 0.015, n = 48,238), but with lower in HDL-cholesterol concentrations (p = 4.5x10(-13), n = 96,748) and decreased BMI (p = 1.4x10(-4), n = 121,335). These findings identify novel genetic determinants of adiponectin levels, which, taken together, influence risk of T2D and markers of insulin resistance.  
  Address Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada  
  Corporate Author GLGC Consortium Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1553-7390 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22479202; PMC3315470 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1516  
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Author (up) Gaulton, K.J.; Ferreira, T.; Lee, Y.; Raimondo, A.; Magi, R.; Reschen, M.E.; Mahajan, A.; Locke, A.; William Rayner, N.; Robertson, N.; Scott, R.A.; Prokopenko, I.; Scott, L.J.; Green, T.; Sparso, T.; Thuillier, D.; Yengo, L.; Grallert, H.; Wahl, S.; Franberg, M.; Strawbridge, R.J.; Kestler, H.; Chheda, H.; Eisele, L.; Gustafsson, S.; Steinthorsdottir, V.; Thorleifsson, G.; Qi, L.; Karssen, L.C.; van Leeuwen, E.M.; Willems, S.M.; Li, M.; Chen, H.; Fuchsberger, C.; Kwan, P.; Ma, C.; Linderman, M.; Lu, Y.; Thomsen, S.K.; Rundle, J.K.; Beer, N.L.; van de Bunt, M.; Chalisey, A.; Kang, H.M.; Voight, B.F.; Abecasis, G.R.; Almgren, P.; Baldassarre, D.; Balkau, B.; Benediktsson, R.; Bluher, M.; Boeing, H.; Bonnycastle, L.L.; Bottinger, E.P.; Burtt, N.P.; Carey, J.; Charpentier, G.; Chines, P.S.; Cornelis, M.C.; Couper, D.J.; Crenshaw, A.T.; van Dam, R.M.; Doney, A.S.; Dorkhan, M.; Edkins, S.; Eriksson, J.G.; Esko, T.; Eury, E.; Fadista, J.; Flannick, J.; Fontanillas, P.; Fox, C.; Franks, P.W.; Gertow, K.; Gieger, C.; Gigante, B.; Gottesman, O.; Grant, G.B.; Grarup, N.; Groves, C.J.; Hassinen, M.; Have, C.T.; Herder, C.; Holmen, O.L.; Hreidarsson, A.B.; Humphries, S.E.; Hunter, D.J.; Jackson, A.U.; Jonsson, A.; Jorgensen, M.E.; Jorgensen, T.; Kao, W.H.; Kerrison, N.D.; Kinnunen, L.; Klopp, N.; Kong, A.; Kovacs, P.; Kraft, P.; Kravic, J.; Langford, C.; Leander, K.; Liang, L.; Lichtner, P.; Lindgren, C.M.; Lindholm, E.; Linneberg, A.; Liu, C.T.; Lobbens, S.; Luan, J.; Lyssenko, V.; Mannisto, S.; McLeod, O.; Meyer, J.; Mihailov, E.; Mirza, G.; Muhleisen, T.W.; Muller-Nurasyid, M.; Navarro, C.; Nothen, M.M.; Oskolkov, N.N.; Owen, K.R.; Palli, D.; Pechlivanis, S.; Peltonen, L.; Perry, J.R.; Platou, C.G.; Roden, M.; Ruderfer, D.; Rybin, D.; van der Schouw, Y.T.; Sennblad, B.; Sigurethsson, G.; Stancakova, A.; Steinbach, G.; Storm, P.; Strauch, K.; Stringham, H.M.; Sun, Q.; Thorand, B.; Tikkanen, E.; Tonjes, A.; Trakalo, J.; Tremoli, E.; Tuomi, T.; Wennauer, R.; Wiltshire, S.; Wood, A.R.; Zeggini, E.; Dunham, I.; Birney, E.; Pasquali, L.; Ferrer, J.; Loos, R.J.; Dupuis, J.; Florez, J.C.; Boerwinkle, E.; Pankow, J.S.; van Duijn, C.; Sijbrands, E.; Meigs, J.B.; Hu, F.B.; Thorsteinsdottir, U.; Stefansson, K.; Lakka, T.A.; Rauramaa, R.; Stumvoll, M.; Pedersen, N.L.; Lind, L.; Keinanen-Kiukaanniemi, S.M.; Korpi-Hyovalti, E.; Saaristo, T.E.; Saltevo, J.; Kuusisto, J.; Laakso, M.; Metspalu, A.; Erbel, R.; Jocke, K.H.; Moebus, S.; Ripatti, S.; Salomaa, V.; Ingelsson, E.; Boehm, B.O.; Bergman, R.N.; Collins, F.S.; Mohlke, K.L.; Koistinen, H.; Tuomilehto, J.; Hveem, K.; Njolstad, I.; Deloukas, P.; Donnelly, P.J.; Frayling, T.M.; Hattersley, A.T.; de Faire, U.; Hamsten, A.; Illig, T.; Peters, A.; Cauchi, S.; Sladek, R.; Froguel, P.; Hansen, T.; Pedersen, O.; Morris, A.D.; Palmer, C.N.; Kathiresan, S.; Melander, O.; Nilsson, P.M.; Groop, L.C.; Barroso, I.; Langenberg, C.; Wareham, N.J.; O'Callaghan, C.A.; Gloyn, A.L.; Altshuler, D.; Boehnke, M.; Teslovich, T.M.; McCarthy, M.I.; Morris, A.P.; Replication, D.I.A.G.; Meta-analysis, C. url  doi
  Title Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci Type Journal Article
  Year 2015 Publication Nat Genet Abbreviated Journal Nature genetics  
  Volume 47 Issue 12 Pages 1415-1425  
  Keywords 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. 'Credible sets' 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.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.Department of Genetics, S Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes 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'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'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. Approved no  
  Call Number HUNT @ maria.stuifbergen @ Gaulton2015 Serial 1810  
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Author (up) Marouli, E.; Graff, M.; Medina-Gomez, C.; Lo, K.S.; Wood, A.R.; Kjaer, T.R.; Fine, R.S.; Lu, Y.; Schurmann, C.; Highland, H.M.; Rueger, S.; Thorleifsson, G.; Justice, A.E.; Lamparter, D.; Stirrups, K.E.; Turcot, V.; Young, K.L.; Winkler, T.W.; Esko, T.; Karaderi, T.; Locke, A.E.; Masca, N.G.D.; Ng, M.C.Y.; Mudgal, P.; Rivas, M.A.; Vedantam, S.; Mahajan, A.; Guo, X.; Abecasis, G.; Aben, K.K.; Adair, L.S.; Alam, D.S.; Albrecht, E.; Allin, K.H.; Allison, M.; Amouyel, P.; Appel, E.V.; Arveiler, D.; Asselbergs, F.W.; Auer, P.L.; Balkau, B.; Banas, B.; Bang, L.E.; Benn, M.; Bergmann, S.; Bielak, L.F.; Bluher, M.; Boeing, H.; Boerwinkle, E.; Boger, C.A.; Bonnycastle, L.L.; Bork-Jensen, J.; Bots, M.L.; Bottinger, E.P.; Bowden, D.W.; Brandslund, I.; Breen, G.; Brilliant, M.H.; Broer, L.; Burt, A.A.; Butterworth, A.S.; Carey, D.J.; Caulfield, M.J.; Chambers, J.C.; Chasman, D.I.; Chen, Y.-D.I.; Chowdhury, R.; Christensen, C.; Chu, A.Y.; Cocca, M.; Collins, F.S.; Cook, J.P.; Corley, J.; Galbany, J.C.; Cox, A.J.; Cuellar-Partida, G.; Danesh, J.; Davies, G.; de Bakker, P.I.W.; de Borst, G.J.; de Denus, S.; de Groot, M.C.H.; de Mutsert, R.; Deary, I.J.; Dedoussis, G.; Demerath, E.W.; den Hollander, A.I.; Dennis, J.G.; Di Angelantonio, E.; Drenos, F.; Du, M.; Dunning, A.M.; Easton, D.F.; Ebeling, T.; Edwards, T.L.; Ellinor, P.T.; Elliott, P.; Evangelou, E.; Farmaki, A.-E.; Faul, J.D.; Feitosa, M.F.; Feng, S.; Ferrannini, E.; Ferrario, M.M.; Ferrieres, J.; Florez, J.C.; Ford, I.; Fornage, M.; Franks, P.W.; Frikke-Schmidt, R.; Galesloot, T.E.; Gan, W.; Gandin, I.; Gasparini, P.; Giedraitis, V.; Giri, A.; Girotto, G.; Gordon, S.D.; Gordon-Larsen, P.; Gorski, M.; Grarup, N.; Grove, M.L.; Gudnason, V.; Gustafsson, S.; Hansen, T.; Harris, K.M.; Harris, T.B.; Hattersley, A.T.; Hayward, C.; He, L.; Heid, I.M.; Heikkila, K.; Helgeland, O.; Hernesniemi, J.; Hewitt, A.W.; Hocking, L.J.; Hollensted, M.; Holmen, O.L.; Hovingh, G.K.; Howson, J.M.M.; Hoyng, C.B.; Huang, P.L.; Hveem, K.; Ikram, M.A.; Ingelsson, E.; Jackson, A.U.; Jansson, J.-H.; Jarvik, G.P.; Jensen, G.B.; Jhun, M.A.; Jia, Y.; Jiang, X.; Johansson, S.; Jorgensen, M.E.; Jorgensen, T.; Jousilahti, P.; Jukema, J.W.; Kahali, B.; Kahn, R.S.; Kahonen, M.; Kamstrup, P.R.; Kanoni, S.; Kaprio, J.; Karaleftheri, M.; Kardia, S.L.R.; Karpe, F.; Kee, F.; Keeman, R.; Kiemeney, L.A.; Kitajima, H.; Kluivers, K.B.; Kocher, T.; Komulainen, P.; Kontto, J.; Kooner, J.S.; Kooperberg, C.; Kovacs, P.; Kriebel, J.; Kuivaniemi, H.; Kury, S.; Kuusisto, J.; La Bianca, M.; Laakso, M.; Lakka, T.A.; Lange, E.M.; Lange, L.A.; Langefeld, C.D.; Langenberg, C.; Larson, E.B.; Lee, I.-T.; Lehtimaki, T.; Lewis, C.E.; Li, H.; Li, J.; Li-Gao, R.; Lin, H.; Lin, L.-A.; Lin, X.; Lind, L.; Lindstrom, J.; Linneberg, A.; Liu, Y.; Liu, Y.; Lophatananon, A.; Luan, J.'an; Lubitz, S.A.; Lyytikainen, L.-P.; Mackey, D.A.; Madden, P.A.F.; Manning, A.K.; Mannisto, S.; Marenne, G.; Marten, J.; Martin, N.G.; Mazul, A.L.; Meidtner, K.; Metspalu, A.; Mitchell, P.; Mohlke, K.L.; Mook-Kanamori, D.O.; Morgan, A.; Morris, A.D.; Morris, A.P.; Muller-Nurasyid, M.; Munroe, P.B.; Nalls, M.A.; Nauck, M.; Nelson, C.P.; Neville, M.; Nielsen, S.F.; Nikus, K.; Njolstad, P.R.; Nordestgaard, B.G.; Ntalla, I.; O'Connel, J.R.; Oksa, H.; Loohuis, L.M.O.; Ophoff, R.A.; Owen, K.R.; Packard, C.J.; Padmanabhan, S.; Palmer, C.N.A.; Pasterkamp, G.; Patel, A.P.; Pattie, A.; Pedersen, O.; Peissig, P.L.; Peloso, G.M.; Pennell, C.E.; Perola, M.; Perry, J.A.; Perry, J.R.B.; Person, T.N.; Pirie, A.; Polasek, O.; Posthuma, D.; Raitakari, O.T.; Rasheed, A.; Rauramaa, R.; Reilly, D.F.; Reiner, A.P.; Renstrom, F.; Ridker, P.M.; Rioux, J.D.; Robertson, N.; Robino, A.; Rolandsson, O.; Rudan, I.; Ruth, K.S.; Saleheen, D.; Salomaa, V.; Samani, N.J.; Sandow, K.; Sapkota, Y.; Sattar, N.; Schmidt, M.K.; Schreiner, P.J.; Schulze, M.B.; Scott, R.A.; Segura-Lepe, M.P.; Shah, S.; Sim, X.; Sivapalaratnam, S.; Small, K.S.; Smith, A.V.; Smith, J.A.; Southam, L.; Spector, T.D.; Speliotes, E.K.; Starr, J.M.; Steinthorsdottir, V.; Stringham, H.M.; Stumvoll, M.; Surendran, P.; 't Hart, L.M.; Tansey, K.E.; Tardif, J.-C.; Taylor, K.D.; Teumer, A.; Thompson, D.J.; Thorsteinsdottir, U.; Thuesen, B.H.; Tonjes, A.; Tromp, G.; Trompet, S.; Tsafantakis, E.; Tuomilehto, J.; Tybjaerg-Hansen, A.; Tyrer, J.P.; Uher, R.; Uitterlinden, A.G.; Ulivi, S.; van der Laan, S.W.; Van Der Leij, A.R.; van Duijn, C.M.; van Schoor, N.M.; van Setten, J.; Varbo, A.; Varga, T.V.; Varma, R.; Edwards, D.R.V.; Vermeulen, S.H.; Vestergaard, H.; Vitart, V.; Vogt, T.F.; Vozzi, D.; Walker, M.; Wang, F.; Wang, C.A.; Wang, S.; Wang, Y.; Wareham, N.J.; Warren, H.R.; Wessel, J.; Willems, S.M.; Wilson, J.G.; Witte, D.R.; Woods, M.O.; Wu, Y.; Yaghootkar, H.; Yao, J.; Yao, P.; Yerges-Armstrong, L.M.; Young, R.; Zeggini, E.; Zhan, X.; Zhang, W.; Zhao, J.H.; Zhao, W.; Zhao, W.; Zheng, H.; Zhou, W.; Rotter, J.I.; Boehnke, M.; Kathiresan, S.; McCarthy, M.I.; Willer, C.J.; Stefansson, K.; Borecki, I.B.; Liu, D.J.; North, K.E.; Heard-Costa, N.L.; Pers, T.H.; Lindgren, C.M.; Oxvig, C.; Kutalik, Z.; Rivadeneira, F.; Loos, R.J.F.; Frayling, T.M.; Hirschhorn, J.N.; Deloukas, P.; Lettre, G. url  doi
  Title Rare and low-frequency coding variants alter human adult height Type Journal Article
  Year 2017 Publication Nature Abbreviated Journal Nature  
  Volume 542 Issue 7640 Pages 186-190  
  Keywords ADAMTS Proteins/genetics; Adult; Alleles; Body Height/*genetics; Cell Adhesion Molecules/genetics; Female; Gene Frequency/*genetics; Genetic Variation/*genetics; Genome, Human/genetics; Glycoproteins/genetics/metabolism; Glycosaminoglycans/biosynthesis; Hedgehog Proteins/genetics; Humans; Intercellular Signaling Peptides and Proteins/genetics/metabolism; Interferon Regulatory Factors/genetics; Interleukin-11 Receptor alpha Subunit/genetics; Male; Multifactorial Inheritance/genetics; NADPH Oxidase 4; NADPH Oxidases/genetics; Phenotype; Pregnancy-Associated Plasma Protein-A/metabolism; Procollagen N-Endopeptidase/genetics; Proteoglycans/biosynthesis; Proteolysis; Receptors, Androgen/genetics; Somatomedins/metabolism  
  Abstract Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.  
  Address Department of Medicine, Faculty of Medicine, Universite de Montreal, Montreal, Quebec, H3T 1J4, Canada  
  Corporate Author MAGIC Investigators Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0028-0836 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:28146470; PMCID:PMC5302847 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1953  
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