2 results for Attwood, 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; Mägi, R; Meacham, S; Okada, Y; Pirastu, N; Sorice, R; Teumer, A; Voss, K; Zhang, W; Ramirez-Solis, R; Bis, JC; Ellinghaus, D; Gögele, 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; Döring, 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; Kühnel, 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; Nöthlings, 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; Tönjes, A; Uda, M; Ulivi, S; Van Veldhuisen, DJ; Visscher, PM; Völker, 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 of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

    Craddock, N; Hurles, ME; Cardin, N; Pearson, RD; Plagnol, V; Robson, S; Vukcevic, D; Barnes, C; Conrad, DF; Giannoulatou, E; Holmes, C; Marchini, JL; Stirrups, K; Tobin, MD; Wain, LV; Yau, C; Aerts, J; Ahmad, T; Andrews, TD; Arbury, H; Attwood, A; Auton, A; Ball, SG; Balmforth, AJ; Barrett, JC; Barroso, I; Barton, A; Bennett, AJ; Bhaskar, S; Blaszczyk, K; Bowes, J; Brand, OJ; Braund, PS; Bredin, F; Breen, G; Brown, MJ; Bruce, IN; Bull, J; Burren, OS; Burton, J; Byrnes, J; Caesar, S; Clee, CM; Coffey, AJ; Connell, JMC; Cooper, JD; Dominiczak, AF; Downes, K; Drummond, HE; Dudakia, D; Dunham, A; Ebbs, B; Eccles, D; Edkins, S; Edwards, C; Elliot, A; Emery, P; Evans, DM; Evans, G; Eyre, S; Farmer, A; Ferrier, IN; Feuk, L; Fitzgerald, T; Flynn, E; Forbes, A; Forty, L; Franklyn, JA; Freathy, RM; Gibbs, P; Gilbert, P; Gokumen, O; Gordon-Smith, K; Gray, E; Green, E; Groves, CJ; Grozeva, D; Gwilliam, R; Hall, A; Hammond, N; Hardy, M; Harrison, P; Hassanali, N; Hebaishi, H; Hines, S; Hinks, A; Hitman, GA; Hocking, L; Howard, E; Howard, P; Howson, JMM; Hughes, D; Hunt, S; Isaacs, JD; Jain, M; Jewell, DP; Johnson, T; Jolley, JD; Jones, IR; Jones, LA; Kirov, G; Langford, CF; Lango-Allen, H; Lathrop, GM; Lee, J; Lee, Kathryn; Lees, C; Lewis, K; Lindgren, CM; Maisuria-Armer, M; Maller, J; Mansfield, J; Martin, P; Massey, DCO; McArdle, WL; McGuffin, P; McLay, KE; Mentzer, A; Mimmack, ML; Morgan, AE; Morris, AP; Mowat, C; Myers, S; Newman, W; Nimmo, ER; O'Donovan, MC; Onipinla, A; Onyiah, I; Ovington, NR; Owen, MJ; Palin, K; Parnell, K; Pernet, D; Perry, JRB; Phillips, A; Pinto, D; Prescott, NJ; Prokopenko, I; Quail, MA; Rafelt, S; Rayner, NW; Redon, R; Reid, DM; Renwick, A; Ring, SM; Robertson, N; Russell, E; Clair, DS; Sambrook, JG; Sanderson, JD; Schuilenburg, H; Scott, CE; Scott, R; Seal, S; Shaw-Hawkins, S; Shields, BM; Simmonds, MJ; Smyth, DJ; Somaskantharajah, E; Spanova, K; Steer, S; Stephens, J; Stevens, HE; Stone, MA; Su, Z; Symmons, DPM; Thompson, JR; Thomson, W; Travers, ME; Turnbull, C; Valsesia, A; Walker, M; Walker, NM; Wallace, C; Warren-Perry, M; Watkins, NA; Webster, J; Weedon, MN; Wilson, AG; Woodburn, M; Wordsworth, BP; Young, AH; Zeggini, E; Carter, NP; Frayling, TM; Lee, C; McVean, G; Munroe, PB; Palotie, A; Sawcer, SJ; Scherer, SW; Strachan, DP; Tyler-Smith, C; Brown, MA; Burton, PR; Caulfield, MJ; Compston, A; Farrall, M; Gough, SCL; Hall, AS; Hattersley, AT; Hill, AVS; Mathew, CG; Pembrey, M; Satsangi, J; Stratton, MR; Worthington, J; Deloukas, P; Duncanson, A; Kwiatkowski, DP; McCarthy, MI; Ouwehand, WH; Parkes, M; Rahman, N; Todd, JA; Samani, NJ; Donnelly, P (2010)

    Journal article
    The University of Auckland Library

    Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed ,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated ,50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease—IRGM for Crohn’s disease, HLA for Crohn’s disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes—although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.

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