2 results for Pouta, A

  • New gene functions in megakaryopoiesis and platelet formation

    Gieger, C; Radhakrishnan, A; Cvejic, A; Tang, W; Porcu, E; Pistis, G; Serbanovic-Canic, J; Elling, U; Goodall, AH; Labrune, Y; Lopez, LM; M??gi, R; Meacham, S; Okada, Y; Pirastu, N; Sorice, R; Teumer, A; Voss, K; Zhang, W; Ramirez-Solis, R; Bis, JC; Ellinghaus, D; G??gele, M; Hottenga, J-J; Langenberg, C; Kovacs, P; O'reilly, PF; Shin, S-Y; Esko, T; Hartiala, J; Kanoni, S; Murgia, F; Parsa, A; Stephens, J; Van Der Harst, P; Ellen Van Der Schoot, C; Allayee, H; Attwood, A; Balkau, B; Bastardot, F; Basu, S; Baumeister, SE; Biino, G; Bomba, L; Bonnefond, A; Cambien, F; Chambers, JC; Cucca, F; D'Adamo, P; Davies, G; De Boer, RA; De Geus, EJC; D??ring, A; Elliott, P; Erdmann, J; Evans, DM; Falchi, M; Feng, W; Folsom, AR; Frazer, IH; Gibson, QD; Glazer, NL; Hammond, C; Hartikainen, A-L; Heckbert, SR; Hengstenberg, C; Hersch, M; Illig, T; Loos, RJF; Jolley, J; Tee Khaw, K; K??hnel, B; Kyrtsonis, M-C; Lagou, V; Lloyd-Jones, H; Lumley, Thomas; Mangino, M; Maschio, A; Mateo Leach, I; Mcknight, B; Memari, Y; Mitchell, BD; Montgomery, GW; Nakamura, Y; Nauck, M; Navis, G; N??thlings, U; Nolte, IM; Porteous, DJ; Pouta, A; Pramstaller, PP; Pullat, J; Ring, SM; Rotter, JI; Ruggiero, D; Ruokonen, A; Sala, C; Samani, NJ; Sambrook, J; Schlessinger, D; Schreiber, S; Schunkert, H; Scott, J; Smith, NL; Snieder, H; Starr, JM; Stumvoll, M; Takahashi, A; Wilson Tang, WH; Taylor, K; Tenesa, A; Lay Thein, S; T??njes, A; Uda, M; Ulivi, S; Van Veldhuisen, DJ; Visscher, PM; V??lker, U; Wichmann, H-E; Wiggins, KL; Willemsen, G; Yang, T-P; Hua Zhao, J; Zitting, P; Bradley, JR; Dedoussis, GV; Gasparini, P; Hazen, SL; Metspalu, A; Pirastu, M; Shuldiner, AR; Joost Van Pelt, L; Zwaginga, J-J; Boomsma, DI; Deary, IJ; Franke, A; Froguel, P; Ganesh, SK; Jarvelin, M-R; Martin, NG; Meisinger, C; Psaty, BM; Spector, TD; Wareham, NJ; Akkerman, J-WN; Ciullo, M; Deloukas, P; Greinacher, A; Jupe, S; Kamatani, N; Khadake, J; Kooner, JS; Penninger, J; Prokopenko, I; Stemple, D; Toniolo, D; Wernisch, L; Sanna, S; Hicks, AA; Rendon, A; Ferreira, MA; Ouwehand, WH; Soranzo, N (2011)

    Journal article
    The University of Auckland Library

    Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.

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  • Genome-wide association study identifies eight loci associated with blood pressure

    Newton-Cheh, C; Johnson, T; Gateva, V; Tobin, MD; Bochud, M; Coin, L; Najjar, SS; Zhao, JH; Heath, SC; Eyheramendy, S; Papadakis, K; Voight, BF; Scott, LJ; Zhang, F; Farrall, M; Tanaka, T; Wallace, C; Chambers, JC; Khaw, K-T; Nilsson, P; Van Der Harst, P; Polidoro, S; Grobbee, DE; Onland-Moret, NC; Bots, ML; Wain, LV; Elliot, KS; Teumer, A; Luan, J; Lucas, G; Kuusisto, J; Burton, PR; Hadley, D; McArdle, WL; Brown, M; Dominiczak, A; Newhouse, SJ; Samani, NJ; Webster, J; Zeggini, E; Beckmann, JS; Bergmann, S; Lim, N; Song, K; Vollenweider, P; Waeber, G; Waterworth, DM; Yuan, X; Groop, L; Orho-Melander, M; Allione, A; Di Gregorio, A; Guarrera, S; Panico, S; Ricceri, F; Romanazzi, V; Sacerdote, C; Vineis, P; Barroso, I; Sandhu, MS; Luben, RN; Crawford, GJ; Jousilahti, P; Perola, M; Boehnke, M; Bonnycastle, LL; Collins, FS; Jackson, AU; Mohlke, KL; Stringham, HM; Valle, TT; Willer, CJ; Bergman, RN; Morken, MA; D??ring, A; Gieger, C; Illig, T; Meitinger, T; Org, E; Pfeufer, A; Wichmann, HE; Kathiresan, S; Marrugat, J; O'Donnell, CJ; Schwartz, SM; Siscovick, DS; Subirana, I; Freimer, NB; Hartikainen, A-L; McCarthy, MI; O'Reilly, PF; Peltonen, L; Pouta, A; De Jong, PE; Snieder, H; Van Gilst, WH; Clarke, R; Goel, A; Hamsten, A; Peden, JF; Seedorf, U; Syvanen, A-C; Togoni, G; Lakatta, EG; Sanna, S; Scheet, P; Schlessinger, D; Scuteri, A; Dorr, M; Ernst, F; Felix, SB; Homuth, G; Lorbeer, R; Reffelmann, T; Rettig, R; Volker, U; Galan, P; Gut, IG; Hercberg, S; Lathrop, GM; Zelenika, D; Deloukas, P; Soranzo, N; Williams, FM; Zhai, G; Salomaa, V; Laakso, M; Elosua, R; Forouhi, NG; Volzke, H; Uiterwaal, CS; van der Schouw, YT; Numans, ME; Matullo, G; Navis, G; Berglund, G; Bingham, SA; Kooner, JS; Connell, JM; Bandinelli, S; Ferrucci, L; Watkins, H; Spector, TD; Tuomilehto, J; Altshuler, D; Strachan, DP; Laan, M; Meneton, P; Wareham, NJ; Uda, M; Jarvelin, M-R; Mooser, V; Melander, O; Loos, RJF; Elliott, P; Abecasis, GR; Caulfield, M; Munroe, PB; Lee, Kathryn (2009)

    Journal article
    The University of Auckland Library

    Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N ??? 71,225 European ancestry, N ??? 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N = 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 ?? 10???24), CYP1A2 (P = 1 ?? 10???23), FGF5 (P = 1 ?? 10???21), SH2B3 (P = 3 ?? 10???18), MTHFR (P = 2 ?? 10???13), c10orf107 (P = 1 ?? 10???9), ZNF652 (P = 5 ?? 10???9) and PLCD3 (P = 1 ?? 10???8) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.

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