Now showing items 1-4 of 4

  • A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk 

    Manning, A; Highland, HM; Gasser, J; Sim, X; Tukiainen, T; Fontanillas, P; Grarup, N; Rivas, MA; Mahajan, A; Locke, AE; Cingolani, P; Pers, TH; Viñuela, A; Brown, AA; Wu, Y; Flannick, J; Fuchsberger, C; Gamazon, ER; Gaulton, KJ; Im, HK; Teslovich, TM; Blackwell, TW; Bork-Jensen, J; Burtt, NP; Chen, Y; Green, T; Hartl, C; Kang, HM; Kumar, A; Ladenvall, C; Ma, C; Moutsianas, L; Pearson, RD; Perry, JRB; Rayner, NW; Robertson, NR; Scott, LJ; van de Bunt, M; Eriksson, JG; Jula, A; Koskinen, S; Lehtimäki, T; Palotie, A; Raitakari, OT; Jacobs, SB; Wessel, J; Chu, AY; Scott, RA; Goodarzi, MO; Blancher, C; Buck, G; Buck, D; Chines, PS; Gabriel, S; Gjesing, AP; Groves, CJ; Hollensted, M; Huyghe, JR; Jackson, AU; Jun, G; Justesen, JM; Mangino, M; Murphy, J; Neville, M; Onofrio, R; Small, KS; Stringham, HM; Trakalo, J; Banks, E; Carey, J; Carneiro, MO; DePristo, M; Farjoun, Y; Fennell, T; Goldstein, JI; Grant, G; Hrabé de Angelis, M; Maguire, J; Neale, BM; Poplin, R; Purcell, S; Schwarzmayr, T; Shakir, K; Smith, JD; Strom, TM; Wieland, T; Lindstrom, J; Brandslund, I; Christensen, C; Surdulescu, GL; Lakka, TA; Doney, ASF; Nilsson, P; Wareham, NJ; Langenberg, C; Varga, TV; Franks, PW; Rolandsson, O; Rosengren, AH; Farook, VS; Thameem, F; Puppala, S; Kumar, S; Lehman, DM; Jenkinson, CP; Curran, JE; Hale, DE; Fowler, SP; Arya, R; DeFronzo, RA; Abboud, HE; Syvänen, A-C; Hicks, PJ; Palmer, ND; Ng, MCY; Bowden, DW; Freedman, BI; Esko, T; Mägi, R; Milani, L; Mihailov, E; Metspalu, A; Narisu, N; Kinnunen, L; Bonnycastle, LL; Swift, A; Pasko, D; Wood, AR; Fadista, J; Pollin, TI; Barzilai, N; Atzmon, G; Glaser, B; Thorand, B; Strauch, K; Peters, A; Roden, M; Müller-Nurasyid, M; Liang, L; Kriebel, J; Illig, T; Grallert, H; Gieger, C; Meisinger, C; Lannfelt, L; Musani, SK; Griswold, M; Taylor, HA; Wilson, G; Correa, A; Oksa, H; Scott, WR; Afzal, U; Tan, S-T; Loh, M; Chambers, JC; Sehmi, J; Kooner, JS; Lehne, B; Cho, YS; Lee, J-Y; Han, B-G; Käräjämäki, A; Qi, Q; Qi, L; Huang, J; Hu, FB; Melander, O; Orho-Melander, M; Below, JE; Aguilar, D; Wong, TY; Liu, J; Khor, C-C; Chia, KS; Lim, WY; Cheng, C-Y; Chan, E; Tai, ES; Aung, T; Linneberg, A; Isomaa, B; Meitinger, T; Tuomi, T; Hakaste, L; Kravic, J; Jørgensen, ME; Lauritzen, T; Deloukas, P; Stirrups, KE; Owen, KR; Farmer, AJ; Frayling, TM; O'Rahilly, SP; Walker, M; Levy, JC; Hodgkiss, D; Hattersley, AT; Kuulasmaa, T; Stančáková, A; Barroso, I; Bharadwaj, D; Chan, J; Chandak, GR; Daly, MJ; Donnelly, PJ; Ebrahim, SB; Elliott, P; Fingerlin, T; Froguel, P; Hu, C; Jia, W; Ma, RCW; McVean, G; Park, T; Prabhakaran, D; Sandhu, M; Scott, J; Sladek, R; Tandon, N; Teo, YY; Zeggini, E; Watanabe, RM; Koistinen, HA; Kesaniemi, YA; Uusitupa, M; Spector, TD; Salomaa, V; Rauramaa, R; Palmer, CNA; Prokopenko, I; Morris, AD; Bergman, RN; Collins, FS; Lind, L; Ingelsson, E; Tuomilehto, J; Karpe, F; Groop, L; Jørgensen, T; Hansen, T; Pedersen, O; Kuusisto, J; Abecasis, G; Bell, GI; Blangero, J; Cox, NJ; Duggirala, R; Seielstad, M; Wilson, JG; Dupuis, J; Ripatti, S; Hanis, CL; Florez, JC; Mohlke, KL; Meigs, JB; Laakso, M; Morris, AP; Boehnke, M; Altshuler, D; McCarthy, MI; Gloyn, AL; Lindgren, CM (American Diabetes Association, 2017-03-24)
    To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together ...
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 

    Turcot, V; Lu, Y; Highland, HM; Schurmann, C; Justice, AE; Fine, RS; Bradfield, JP; Esko, T; Giri, A; Graff, M; Guo, X; Hendricks, AE; Karaderi, T; Lempradl, A; Locke, AE; Mahajan, A; Marouli, E; Sivapalaratnam, S; Young, KL; Alfred, T; Feitosa, MF; Masca, NGD; Manning, AK; Medina-Gomez, C; Mudgal, P; Ng, MCY; Reiner, AP; Vedantam, S; Willems, SM; Winkler, TW; Abecasis, G; Aben, KK; Alam, DS; Alharthi, SE; Allison, M; Amouyel, P; Asselbergs, FW; Auer, PL; Balkau, B; Bang, LE; Barroso, I; Bastarache, L; Benn, M; Bergmann, S; Bielak, LF; Blüher, M; Boehnke, M; Boeing, H; Boerwinkle, E; Böger, CA; Bork-Jensen, J; Bots, ML; Bottinger, EP; Bowden, DW; Brandslund, I; Breen, G; Brilliant, MH; Broer, L; Brumat, M; Burt, AA; Butterworth, AS; Campbell, PT; Cappellani, S; Carey, DJ; Catamo, E; Caulfield, MJ; Chambers, JC; Chasman, DI; Chen, Y-DI; Chowdhury, R; Christensen, C; Chu, AY; Cocca, M; Collins, FS; Cook, JP; Corley, J; Corominas Galbany, J; Cox, AJ; Crosslin, DS; Cuellar-Partida, G; D'Eustacchio, A; Danesh, J; Davies, G; Bakker, PIW; Groot, MCH; Mutsert, R; Deary, IJ; Dedoussis, G; Demerath, EW; Heijer, M; Hollander, AI; Ruijter, HM; Dennis, JG; Denny, JC; Angelantonio, E; Drenos, F; Du, M; Dubé, M-P; Dunning, AM; Easton, DF; Edwards, TL; Ellinghaus, D; Ellinor, PT; Elliott, P; Evangelou, E; Farmaki, A-E; Farooqi, IS; Faul, JD; Fauser, S; Feng, S; Ferrannini, E; Ferrieres, J; Florez, JC; Ford, I; Fornage, M; Franco, OH; Franke, A; Franks, PW; Friedrich, N; Frikke-Schmidt, R; Galesloot, TE; Gan, W; Gandin, I; Gasparini, P; Gibson, J; Giedraitis, V; Gjesing, AP; Gordon-Larsen, P; Gorski, M; Grabe, H-J; Grant, SFA; Grarup, N; Griffiths, HL; Grove, ML; Gudnason, V; Gustafsson, S; Haessler, J; Hakonarson, H; Hammerschlag, AR; Hansen, T; Harris, KM; Harris, TB; Hattersley, AT; Have, CT; Hayward, C; He, L; Heard-Costa, NL; Heath, AC; Heid, IM; Helgeland, Ø; Hernesniemi, J; Hewitt, AW; Holmen, OL; Hovingh, GK; Howson, JMM; Hu, Y; Huang, PL; Huffman, JE; Ikram, MA; Ingelsson, E; Jackson, AU; Jansson, J-H; Jarvik, GP; Jensen, GB; Jia, Y; Johansson, S; Jørgensen, ME; Jørgensen, T; Jukema, JW; Kahali, B; Kahn, RS; Kähönen, M; Kamstrup, PR; Kanoni, S; Kaprio, J; Karaleftheri, M; Kardia, SLR; Karpe, F; Kathiresan, S; Kee, F; Kiemeney, LA; Kim, E; Kitajima, H; Komulainen, P; Kooner, JS; Kooperberg, C; Korhonen, T; Kovacs, P; Kuivaniemi, H; Kutalik, Z; Kuulasmaa, K; Kuusisto, J; Laakso, M; Lakka, TA; Lamparter, D; Lange, EM; Lange, LA; Langenberg, C; Larson, EB; Lee, NR; Lehtimäki, T; Lewis, CE; Li, H; Li, J; Li-Gao, R; Lin, H; Lin, K-H; Lin, L-A; Lin, X; Lind, L; Lindström, J; Linneberg, A; Liu, C-T; Liu, DJ; Liu, Y; Lo, KS; Lophatananon, A; Lotery, AJ; Loukola, A; Luan, J; Lubitz, SA; Lyytikäinen, L-P; Männistö, S; Marenne, G; Mazul, AL; McCarthy, MI; McKean-Cowdin, R; Medland, SE; Meidtner, K; Milani, L; Mistry, V; Mitchell, P; Mohlke, KL; Moilanen, L; Moitry, M; Montgomery, GW; Mook-Kanamori, DO; Moore, C; Mori, TA; Morris, AD; Morris, AP; Müller-Nurasyid, M; Munroe, PB; Nalls, MA; Narisu, N; Nelson, CP; Neville, M; Nielsen, SF; Nikus, K; Njølstad, PR; Nordestgaard, BG; Nyholt, DR; O'Connel, JR; O'Donoghue, ML; Olde Loohuis, LM; Ophoff, RA; Owen, KR; Packard, CJ; Padmanabhan, S; Palmer, CNA; Palmer, ND; Pasterkamp, G; Patel, AP; Pattie, A; Pedersen, O; Peissig, PL; Peloso, GM; Pennell, CE; Perola, M; Perry, JA; Perry, JRB; Pers, TH; Person, TN; Peters, A; Petersen, ERB; Peyser, PA; Pirie, A; Polasek, O; Polderman, TJ; Puolijoki, H; Raitakari, OT; Rasheed, A; Rauramaa, R; Reilly, DF; Renström, F; Rheinberger, M; Ridker, PM; Rioux, JD; Rivas, MA; Roberts, DJ; Robertson, NR; Robino, A; Rolandsson, O; Rudan, I; Ruth, KS; Saleheen, D; Salomaa, V; Samani, NJ; Sapkota, Y; Sattar, N; Schoen, RE; Schreiner, PJ; Schulze, MB; Scott, RA; Segura-Lepe, MP; Shah, SH; Sheu, WH-H; Sim, X; Slater, AJ; Small, KS; Smith, AV; Southam, L; Spector, TD; Speliotes, EK; Starr, JM; Stefansson, K; Steinthorsdottir, V; Stirrups, KE; Strauch, K; Stringham, HM; Stumvoll, M; Sun, L; Surendran, P; Swift, AJ; Tada, H; Tansey, KE; Tardif, J-C; Taylor, KD; Teumer, A; Thompson, DJ; Thorleifsson, G; Thorsteinsdottir, U; Thuesen, BH; Tönjes, A; Tromp, G; Trompet, S; Tsafantakis, E; Tuomilehto, J; Tybjaerg-Hansen, A; Tyrer, JP; Uher, R; Uitterlinden, AG; Uusitupa, M; Laan, SW; Duijn, CM; Leeuwen, N; van Setten, J; Vanhala, M; Varbo, A; Varga, TV; Varma, R; Velez Edwards, DR; Vermeulen, SH; Veronesi, G; Vestergaard, H; Vitart, V; Vogt, TF; Völker, U; Vuckovic, D; Wagenknecht, LE; Walker, M; Wallentin, L; Wang, F; Wang, CA; Wang, S; Wang, Y; Ware, EB; Wareham, NJ; Warren, HR; Waterworth, DM; Wessel, J; White, HD; Willer, CJ; Wilson, JG; Witte, DR; Wood, AR; Wu, Y; Yaghootkar, H; Yao, J; Yao, P; Yerges-Armstrong, LM; Young, R; Zeggini, E; Zhan, X; Zhang, W; Zhao, JH; Zhao, W; Zhou, W; Zondervan, KT; CHD Exome+ Consortium; EPIC-CVD Consortium; ExomeBP Consortium; Global Lipids Genetic Consortium; GoT2D Genes Consortium; EPIC InterAct Consortium; INTERVAL Study; ReproGen Consortium; T2D-Genes Consortium; MAGIC Investigators; Understanding Society Scientific Group; Rotter, JI; Pospisilik, JA; Rivadeneira, F; Borecki, IB; Deloukas, P; Frayling, TM; Lettre, G; North, KE; Lindgren, CM; Hirschhorn, JN; Loos, RJF (Nature Publishing Group, 2017-12-22)
    Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which ...
  • Rare and low-frequency coding variants alter human adult height 

    Marouli, E; Graff, M; Medina-Gomez, C; Lo, KS; Wood, AR; Kjaer, TR; Fine, RS; Lu, Y; Schurmann, C; Highland, HM; Rüeger, S; Thorleifsson, G; Justice, AE; Lamparter, D; Stirrups, KE; Turcot, V; Young, KL; Winkler, TW; Esko, T; Karaderi, T; Locke, AE; Masca, NGD; Ng, MCY; Mudgal, P; Rivas, MA; Vedantam, S; Mahajan, A; Guo, X; Abecasis, G; Aben, KK; Adair, LS; Alam, DS; Albrecht, E; Allin, KH; Allison, M; Amouyel, P; Appel, EV; Arveiler, D; Asselbergs, FW; Auer, PL; Balkau, B; Banas, B; Bang, LE; Benn, M; Bergmann, S; Bielak, LF; Blüher, M; Boeing, H; Boerwinkle, E; Böger, CA; Bonnycastle, LL; Bork-Jensen, J; Bots, ML; Bottinger, EP; Bowden, DW; Brandslund, I; Breen, G; Brilliant, MH; Broer, L; Burt, AA; Butterworth, AS; Carey, DJ; Caulfield, MJ; Chambers, JC; Chasman, DI; Chen, Y-DI; Chowdhury, R; Christensen, C; Chu, AY; Cocca, M; Collins, FS; Cook, JP; Corley, J; Galbany, JC; Cox, AJ; Cuellar-Partida, G; Danesh, J; Davies, G; de Bakker, PIW; de Borst, GJ; de Denus, S; de Groot, MCH; de Mutsert, R; Deary, IJ; Dedoussis, G; Demerath, EW; den Hollander, AI; Dennis, JG; Di Angelantonio, E; Drenos, F; Du, M; Dunning, AM; Easton, DF; Ebeling, T; Edwards, TL; Ellinor, PT; Elliott, P; Evangelou, E; Farmaki, A-E; Faul, JD; Feitosa, MF; Feng, S; Ferrannini, E; Ferrario, MM; Ferrieres, J; Florez, JC; Ford, I; Fornage, M; Franks, PW; Frikke-Schmidt, R; Galesloot, TE; Gan, W; Gandin, I; Gasparini, P; Giedraitis, V; Giri, A; Girotto, G; Gordon, SD; Gordon-Larsen, P; Gorski, M; Grarup, N; Grove, ML; Gudnason, V; Gustafsson, S; Hansen, T; Harris, KM; Harris, TB; Hattersley, AT; Hayward, C; He, L; Heid, IM; Heikkilä, K; Helgeland, Ø; Hernesniemi, J; Hewitt, AW; Hocking, LJ; Hollensted, M; Holmen, OL; Hovingh, GK; Howson, JMM; Hoyng, CB; Huang, PL; Hveem, K; Ikram, MA; Ingelsson, E; Jackson, AU; Jansson, J-H; Jarvik, GP; Jensen, GB; Jhun, MA; Jia, Y; Jiang, X; Johansson, S; Jørgensen, ME; Jørgensen, T; Jousilahti, P; Jukema, JW; Kahali, B; Kahn, RS; Kähönen, M; Kamstrup, PR; Kanoni, S; Kaprio, J; Karaleftheri, M; Kardia, SLR; Karpe, F; Kee, F; Keeman, R; Kiemeney, LA; Kitajima, H; Kluivers, KB; Kocher, T; Komulainen, P; Kontto, J; Kooner, JS; Kooperberg, C; Kovacs, P; Kriebel, J; Kuivaniemi, H; Küry, S; Kuusisto, J; La Bianca, M; Laakso, M; Lakka, TA; Lange, EM; Lange, LA; Langefeld, CD; Langenberg, C; Larson, EB; Lee, I-T; Lehtimäki, T; Lewis, CE; Li, H; Li, J; Li-Gao, R; Lin, H; Lin, L-A; Lin, X; Lind, L; Lindström, J; Linneberg, A; Liu, Y; Liu, Y; Lophatananon, A; Luan, J; Lubitz, SA; Lyytikäinen, L-P; Mackey, DA; Madden, PAF; Manning, AK; Männistö, S; Marenne, G; Marten, J; Martin, NG; Mazul, AL; Meidtner, K; Metspalu, A; Mitchell, P; Mohlke, KL; Mook-Kanamori, DO; Morgan, A; Morris, AD; Morris, AP; Müller-Nurasyid, M; Munroe, PB; Nalls, MA; Nauck, M; Nelson, CP; Neville, M; Nielsen, SF; Nikus, K; Njølstad, PR; Nordestgaard, BG; Ntalla, I; O'Connel, JR; Oksa, H; Loohuis, LMO; Ophoff, RA; Owen, KR; Packard, CJ; Padmanabhan, S; Palmer, CNA; Pasterkamp, G; Patel, AP; Pattie, A; Pedersen, O; Peissig, PL; Peloso, GM; Pennell, CE; Perola, M; Perry, JA; Perry, JRB; Person, TN; Pirie, A; Polasek, O; Posthuma, D; Raitakari, OT; Rasheed, A; Rauramaa, R; Reilly, DF; Reiner, AP; Renström, F; Ridker, PM; Rioux, JD; Robertson, N; Robino, A; Rolandsson, O; Rudan, I; Ruth, KS; Saleheen, D; Salomaa, V; Samani, NJ; Sandow, K; Sapkota, Y; Sattar, N; Schmidt, MK; Schreiner, PJ; Schulze, MB; Scott, RA; Segura-Lepe, MP; Shah, S; Sim, X; Sivapalaratnam, S; Small, KS; Smith, AV; Smith, JA; Southam, L; Spector, TD; Speliotes, EK; Starr, JM; Steinthorsdottir, V; Stringham, HM; Stumvoll, M; Surendran, P; 't Hart, LM; Tansey, KE; Tardif, J-C; Taylor, KD; Teumer, A; Thompson, DJ; Thorsteinsdottir, U; Thuesen, BH; Tönjes, A; Tromp, G; Trompet, S; Tsafantakis, E; Tuomilehto, J; Tybjaerg-Hansen, A; Tyrer, JP; Uher, R; Uitterlinden, AG; Ulivi, S; van der Laan, SW; Van Der Leij, AR; van Duijn, CM; van Schoor, NM; van Setten, J; Varbo, A; Varga, TV; Varma, R; Edwards, DRV; Vermeulen, SH; Vestergaard, H; Vitart, V; Vogt, TF; Vozzi, D; Walker, M; Wang, F; Wang, CA; Wang, S; Wang, Y; Wareham, NJ; Warren, HR; Wessel, J; Willems, SM; Wilson, JG; Witte, DR; Woods, MO; Wu, Y; Yaghootkar, H; Yao, J; Yao, P; Yerges-Armstrong, LM; Young, R; Zeggini, E; Zhan, X; Zhang, W; Zhao, JH; Zhao, W; Zhao, W; Zheng, H; Zhou, W; EPIC-InterAct Consortium; CHD Exome+ Consortium; ExomeBP Consortium; T2D-Genes Consortium; GoT2D Genes Consortium; Global Lipids Genetics Consortium; ReproGen Consortium; MAGIC Investigators; Rotter, JI; Boehnke, M; Kathiresan, S; McCarthy, MI; Willer, CJ; Stefansson, K; Borecki, IB; Liu, DJ; North, KE; Heard-Costa, NL; Pers, TH; Lindgren, CM; Oxvig, C; Kutalik, Z; Rivadeneira, F; Loos, RJF; Frayling, TM; Hirschhorn, JN; Deloukas, P; Lettre, G (Nature Publishing Group, 2017-02-01)
    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 ...
  • A reference panel of 64,976 haplotypes for genotype imputation. 

    McCarthy, S; Das, S; Kretzschmar, W; Delaneau, O; Wood, AR; Teumer, A; Kang, HM; Fuchsberger, C; Danecek, P; Sharp, K; Luo, Y; Sidore, C; Kwong, A; Timpson, N; Koskinen, S; Vrieze, S; Scott, LJ; Zhang, H; Mahajan, A; Veldink, J; Peters, U; Pato, C; van Duijn, CM; Gillies, CE; Gandin, I; Mezzavilla, M; Gilly, A; Cocca, M; Traglia, M; Angius, A; Barrett, JC; Boomsma, D; Branham, K; Breen, G; Brummett, CM; Busonero, F; Campbell, H; Chan, A; Chen, S; Chew, E; Collins, FS; Corbin, LJ; Smith, GD; Dedoussis, G; Dorr, M; Farmaki, AE; Ferrucci, L; Forer, L; Fraser, RM; Gabriel, S; Levy, S; Groop, L; Harrison, T; Hattersley, A; Holmen, OL; Hveem, K; Kretzler, M; Lee, JC; McGue, M; Meitinger, T; Melzer, D; Min, JL; Mohlke, KL; Vincent, JB; Nauck, M; Nickerson, D; Palotie, A; Pato, M; Pirastu, N; McInnis, M; Richards, JB; Sala, C; Salomaa, V; Schlessinger, D; Schoenherr, S; Slagboom, PE; Small, K; Spector, T; Stambolian, D; Tuke, M; Tuomilehto, J; Van den Berg, LH; Van Rheenen, W; Volker, U; Wijmenga, C; Toniolo, D; Zeggini, E; Gasparini, P; Sampson, MG; Wilson, JF; Frayling, T; de Bakker, PI; Swertz, MA; McCarroll, S; Kooperberg, C; Dekker, A; Altshuler, D; Willer, C; Iacono, W; Ripatti, S; Soranzo, N; Walter, K; Swaroop, A; Cucca, F; Anderson, CA; Myers, RM; Boehnke, M; McCarthy, MI; Durbin, R; Abecasis, G; Marchini, J; Haplotype Reference Consortium (Nature Publishing Group, 2016-08-22)
    We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype ...