Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Autor: Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, JF, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, PRHJ, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, DA, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Danecek, P, Day, INM, Day-Williams, A, Dominiczak, A, Down, T, Du, Y, Dunham, I, Durbin, R, Edkins, S, Ekong, R, Ellis, P, Evans, DM, Farooqi, IS, Fitzpatrick, DR, Flicek, P, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Gaunt, TR, Geihs, M, Geschwind, D, Greenwood, CMT, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, AE, Holmans, P, Howie, B, Huang, J, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Joyce, C, Karczewski, KJ, Kaye, J, Keane, T, Kemp, JP, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, van Kogelenberg, M, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, Mangino, M, Marchini, J, Marenne, G, Maslen, J, Mathieson, I, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Memari, Y, Metrustry, S, Migone, N, Mitchison, HM, Moayyeri, A, Morris, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, MC, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Payne, SJ, Perry, JRB, Pietilainen, O, Plagnol, V, Pollitt, RC, Porteous, DJ, Povey, S, Quail, MA, Quaye, L, Raymond, FL, Rehnstrom, K, Richards, JB, Ridout, CK, Ring, S, Ritchie, GRS, Roberts, N, Robinson, RL, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, RH, Semple, RK, Serra, E, Sharp, SI, Shaw, A, Shihab, HA, Shin, S-Y, Skuse, D, Small, KS, Smee, C, Smith, BH, Soranzo, N, Southam, L, Spasic-Boskovic, O, Spector, TD, St Clair, D, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vandersteen, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Wong, K, Xu, C, Yang, J, Zhang, F, Zhang, P, Zheng, H-F, Smith, GD, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bonnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B, UK10K Consortium

Publikováno v: Nature Communications, 10:357. Nature Publishing Group

Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6520f507a01a43d0aeb27c426c74275b
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Autor: George Dedoussis, Farmaki A-E., Jeremy Schwartzentruber, Gil McVean, Eleftheria Zeggini, Loukas Moutsianas, Dionysia K. Xifara, Emmanouil Tsafantakis, Ioanna Tachmazidou, Chrysoula Kiagiadaki, Laura M. Yerges-Armstrong, Yali Xue, Yuan Chen, Ritchie Grs., Nigel W. Rayner, Kalliope Panoutsopoulou, Chris Tyler-Smith, Toni I. Pollin, Angela Matchan, Konstantinos Hatzikotoulas, Lorraine Southam, Jeffery R. O'Connell

Publikováno v: Nature Communications

Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Gre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a71c0c0f23c04589ec9c24c26868d4a
https://doi.org/10.1038/ncomms3872

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

Autor: Hackinger, S, Trajanoska, K, Styrkarsdottir, U, Zengini, E, Steinberg, J, Ritchie, GRS, Hatzikotoulas, K, Gilly, A, Evangelou, E, Kemp, JP, ArcOGEN Consortium, GEFOS Consortium, Evans, D, Ingvarsson, T, Jonsson, H, Thorsteinsdottir, U, Stefansson, K, McCaskie, AW, Brooks, RA, Wilkinson, JM, Rivadeneira, F, Zeggini, E

Osteoarthritis (OA) is a common complex disease with high public health burden and no curative therapy. High bone mineral density (BMD) is associated with an increased risk of developing OA, suggesting a shared underlying biology. Here, we performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d61087d693abff668e7ba7d0128f345c

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.

Autor: Gurdasani D; William Harvey Research Institute, Queen Mary's University of London, London, UK., Carstensen T; Department of Medicine, University of Cambridge, Cambridge, UK., Fatumo S; London School of Hygiene and Tropical Medicine, London, UK; Uganda Medical Informatics Centre (UMIC), MRC/UVRI and LSHTM (Uganda Research Unit), Entebbe, Uganda; H3Africa Bioinformatics Network (H3ABioNet) Node, Center for Genomics Research and Innovation (CGRI)/National Biotechnology Development Agency CGRI/NABDA, Abuja, Nigeria., Chen G; Center for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA., Franklin CS; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Prado-Martinez J; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Bouman H; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Abascal F; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Haber M; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Tachmazidou I; GSK Medicines Research Centre, Gunnels Wood Road, Stevenage Hertfordshire SG1 2NY, UK., Mathieson I; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ekoru K; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda; Department of Medicine, University of Cambridge, Cambridge, UK., DeGorter MK; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Nsubuga RN; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda., Finan C; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Wheeler E; Wellcome Sanger Institute, Hinxton, Cambridge, UK; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK., Chen L; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK., Schiffels S; Department of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, Germany., Chen Y; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Ritchie GRS; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Pollard MO; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Fortune MD; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Mentzer AJ; The Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Garrison E; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Bergström A; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Hatzikotoulas K; Wellcome Sanger Institute, Hinxton, Cambridge, UK; Institute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Adeyemo A; Center for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA., Doumatey A; Center for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA., Elding H; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Wain LV; Department of Health Sciences, University of Leicester, Leicester, UK; National Institute for Health Research, Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, UK., Ehret G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211 Genève 14, Switzerland., Auer PL; Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, USA., Kooperberg CL; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Reiner AP; Department of Epidemiology, University of Washington, Seattle, WA, USA; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Franceschini N; Department of Epidemiology, University of North Carolina, Chapel Hill, NC, USA., Maher D; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda., Montgomery SB; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Kadie C; Microsoft Research, Redmond, CA, USA., Widmer C; Microsoft Research, Los Angeles, CA, USA., Xue Y; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Seeley J; London School of Hygiene and Tropical Medicine, London, UK; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda., Asiki G; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda., Kamali A; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda., Young EH; Wellcome Sanger Institute, Hinxton, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK., Pomilla C; Wellcome Sanger Institute, Hinxton, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK., Soranzo N; Wellcome Sanger Institute, Hinxton, Cambridge, UK; Department of Haematology, University of Cambridge, Cambridge, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, UK., Zeggini E; Institute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Pirie F; Department of Diabetes and Endocrinology, University of KwaZulu-Natal, Durban, South Africa., Morris AP; The Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; Department of Biostatistics, University of Liverpool, Liverpool, UK., Heckerman D; Microsoft Research, Los Angeles, CA, USA., Tyler-Smith C; Wellcome Sanger Institute, Hinxton, Cambridge, UK. Electronic address: cts@sanger.ac.uk., Motala AA; Department of Diabetes and Endocrinology, University of KwaZulu-Natal, Durban, South Africa. Electronic address: motala@ukzn.ac.za., Rotimi C; Center for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA. Electronic address: rotimic@mail.nih.gov., Kaleebu P; London School of Hygiene and Tropical Medicine, London, UK; Uganda Medical Informatics Centre (UMIC), MRC/UVRI and LSHTM (Uganda Research Unit), Entebbe, Uganda; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda. Electronic address: pontiano.kaleebu@mrcuganda.org., Barroso I; Wellcome Sanger Institute, Hinxton, Cambridge, UK; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK. Electronic address: ib1@sanger.ac.uk., Sandhu MS; Department of Medicine, University of Cambridge, Cambridge, UK. Electronic address: mss31@cam.ac.uk.

Publikováno v: Cell [Cell] 2019 Oct 31; Vol. 179 (4), pp. 984-1002.e36.

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus.

Autor: Hackinger S; Human Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1HH, UK., Trajanoska K; Departments of Internal Medicine and Epidemiology, Erasmus University Medical Center, Rotterdam 3000 CA, The Netherlands., Styrkarsdottir U; deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland., Zengini E; Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK.; 5th Department, Dromokaiteio Psychiatric Hospital, Athens 124 61, Greece., Steinberg J; Human Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1HH, UK., Ritchie GRS; Human Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1HH, UK., Hatzikotoulas K; Human Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1HH, UK., Gilly A; Human Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1HH, UK., Evangelou E; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina 45110, Greece.; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK., Kemp JP; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia., Evans D; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia., Ingvarsson T; Department of Orthopedic Surgery, Akureyri Hospital, 600 Akureyri, Iceland.; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Institution of Health Science, University of Akureyri, 600 Akureyri, Iceland., Jonsson H; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Medicine, Landspitali, The National University Hospital of Iceland, 101 Reykjavik, Iceland., Thorsteinsdottir U; deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland., Stefansson K; deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland., McCaskie AW; Division of Trauma & Orthopaedic Surgery, University of Cambridge, Box 180, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Brooks RA; Division of Trauma & Orthopaedic Surgery, University of Cambridge, Box 180, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Wilkinson JM; Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK., Rivadeneira F; Departments of Internal Medicine and Epidemiology, Erasmus University Medical Center, Rotterdam 3000 CA, The Netherlands., Zeggini E; Human Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1HH, UK.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2017 Oct 01; Vol. 26 (19), pp. 3850-3858.