Hundreds of variants clustered in genomic loci and biological pathways affect human height

Nature - Tập 467 Số 7317 - Trang 832-838 - 2010
Hana Lango Allen1, Karol Estrada2, Guillaume Lettre3, Sonja I. Berndt4, Michael N. Weedon1, Fernando Rivadeneira2, Cristen J. Willer5, Anne Jackson5, Sailaja Vedantam6, Soumya Raychaudhuri7, Teresa Ferreira8, Andrew R. Wood1, Robert J. Weyant5, Ayellet V. Segrè7, Elizabeth K. Speliotes9, Eleanor Wheeler10, Nicole Soranzo10, Ju‐Hyun Park4, Jian Yang11, Daníel F. Guðbjartsson12, Nancy L. Heard‐Costa13, Joshua W. Knowles8, Lü Qi14, Albert Hofman15, Reedik Mägi8, Tomi Pastinen16, Ming‐Huei Chen17, Iris M. Heid18, Jian’an Luan19, Guðmar Þorleifsson12, Thomas W. Winkler18, Michael E. Goddard20, Ken Sin Lo3, Cameron Palmer6, Tsegaselassie Workalemahu14, Yurii S. Aulchenko21, Åsa Johansson22, M. Carola Zillikens23, Mary F. Feitosa24, Tõnu Esko25, Toby Johnson26, Shamika Ketkar24, Peter Kraft27, Massimo Mangino28, Inga Prokopenko8, Eva Albrecht29, Florian Ernst30, Nicole L. Glazer31, Caroline Hayward32, Jouke‐Jan Hottenga33, Kevin B. Jacobs34, Zoltán Kutalik26, Keri L. Monda35, Ozren Polašek36, Michael Preuß37, Nigel W. Rayner8, Neil R. Robertson8, Valgerður Steinthórsdóttir12, Jonathan Tyrer38, Benjamin F. Voight7, Fredrik Wiklund39, Jianfeng Xu40, Jing Hua Zhao19, Dale R. Nyholt41, Niina Pellikka42, Markus Perola42, John R. B. Perry1, Ida Surakka42, Mari-Liis Tammesoo25, Elizabeth L. Altmaier9, Najaf Amin2, Thor Aspelund15, Tushar Bhangale43, Salome Scholtens3, Daniel I. Chasman44, Constance Chen45, Lachlan Coin46, Matthew N. Cooper47, Anna Dixon48, Quince Gibson49, Elin Grundberg10, Ke Hao50, Juhani Junttila51, Lee M. Kaplan52, Johannes Kettunen42, Inke R. König37, Tony Kwan16, Robert Lawrence47, Patrick J. F. Groenen53, Mattias Lorentzon54, Barbara McKnight55, Andrew P. Morris8, Martina Müller‐Nurasyid29, Julius S. Ngwa56, Shaun Purcell57, Suzanne Rafelt58, Rany M. Salem9, Erika Salvi59, Serena Sanna60, Ulla Sovio46, John B. Whitfield61, Michael C. Turchin9, Liesbeth Vandenput54, Dominique J. Verlaan16, Véronique Vitart32, Andreas Ziegler37, Peter Almgren62, Anthony J. Balmforth63, Harry Hemingway64, Lorena Citterio65, Alessandro De Grandi66, Anna F. Dominiczak67, Jubao Duan68, Paul Elliott46, Roberto Elosúa69, Johan G. Eriksson70, Nelson B. Freimer71, Eco J. C. de Geus33, Nicola Glorioso72, Haiqing Shen49, Anna-Liisa Hartikainen73, Aki S. Havulinna74, Andrew A. Hicks66, Jennie Hui47, Thomas Meitinger29, Antti Jula75, Eero Kajantie76, Tuomas O. Kilpeläinen19, Markku Koiranen77, Ivana Kolčić36, Barbara Franke74, Péter Kovács78, Jaana Laitinen79, Jing Liu80, Marja‐Liisa Lokki81, Ana Marušić82, Andrea Maschio60, Antonella Mulas60, Guillaume Paré83, Alex Parker84, John F. Peden8, Astrid Petersmann85, Irene Pichler66, Kirsi H. Pietiläinen86, Anneli Pouta73, Martin Ridderstråle87, Jerome I. Rotter88, Jennifer G. Sambrook89, Alan R. Sanders68, Carsten Oliver Schmidt90, Juha Sinisalo91, Jan Smit92, Heather M. Stringham5, G. Bragi Walters12, Elisabeth Widén42, Sarah H. Wild64, Gonneke Willemsen33, Laura Zagato65, Lina Zgaga36, Paavo Zitting93, Helene Alavere25, Martin Farrall8, Wendy L. McArdle94, Mari Nelis95, Marjolein J. Peters21, Samuli Ripatti42, Joyce B. J. van Meurs21, Katja K.H. Aben96, Kristin Ardlie7, J. Beckmann26, John L. Hopper97, Richard N. Bergman98, Sven Bergmann99, Francis S. Collins100, Daniele Cusi59, Martin den Heijer101, Guðný Eiríksdóttir15, Pablo V. Gejman68, Alistair S. Hall63, Anders Hamsten102, Heikki V. Huikuri51, Carlos Iribarren103, Mika Kähönen104, Jaakko Kaprio42, Sekar Kathiresan57, Lambertus A. Kiemeney96, Thomas Köcher105, Lenore J. Launer106, Terho Lehtimäki107, Olle Melander87, Tom Mosley108, Arthur W. Musk109, Markku S. Nieminen91, Christopher J. O’Donnell110, Claes Ohlsson54, Mark I. McCarthy111, Lyle J. Palmer47, Olli T. Raitakari112, Paul M. Ridker44, John D. Rioux113, Aila Rissanen114, Carlo Rivolta26, Heribert Schunkert115, Alan R. Shuldiner49, David S. Siscovick116, Michael Stümvoll117, Anke Tönjes117, Jaakko Tuomilehto118, G J van Ommen119, Jorma Viikari120, Andrew C. Heath121, Nicholas G. Martin122, Grant W. Montgomery123, Michael A. Province24, Manfred Kayser124, Alice M. Arnold55, Larry D. Atwood13, Eric Boerwinkle125, Stephen S. Rich4, Panos Deloukas10, Christian Gieger29, Henrik Grönberg39, Per Hall39, Andrew T. Hattersley1, Christian Hengstenberg126, Wolfgang Hoffman90, Mark Lathrop127, Veikko Salomaa74, Stefan Schreiber128, Manuela Uda60, Dawn Waterworth129, Alan F. Wright32, Themistocles L. Assimes130, Inês Barroso10, Karen L. Mohlke131, Dorret I. Boomsma33, Mark J. Caulfield132, L. Adrienne Cupples56, Jeanette Erdmann115, Vilmundur Guðnason133, Ulf Gyllensten22, Tamara B. Harris106, Richard B. Hayes134, Marjo‐Riitta Järvelin46, Vincent Mooser129, Patricia B. Munroe132, Willem H. Ouwehand89, Brenda W.J.H. Penninx92, Peter P. Pramstaller66, Thomas Quertermous130, Igor Rudan82, Nilesh J. Samani58, Tim D. Spector28, Henry Völzke90, Hugh Watkins135, James F. Wilson64, Leif Groop62, Talin Haritunians88, Frank B. Hu27, Robert C. Kaplan136, Andres Metspalu95, Kari E. North35, David Schlessinger137, Nicholas J. Wareham19, David J. Hunter27, Jeffrey R. O’Connell49, David P. Strachan138, H‐Erich Wichmann139, Ingrid B. Borecki140, Cornelia M. van Duijn21, Eric J. Brunner141, Unnur Þorsteinsdóttir142, Leena Peltonen143, André G. Uitterlinden21, Peter M. Visscher11, Nilanjan Chatterjee4, Ruth J. F. Loos19, Michael Boehnke5, Erik Ingelsson39, Cecilia M. Lindgren144, Gonçalo R. Abecasis5, Kāri Stefánsson142, Timothy M. Frayling1, Joel N. Hirschhorn145
1Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, EX1 2LU, UK
2Department of Epidemiology, Erasmus Medical Centre, Rotterdam, 3015 GE, The Netherlands
3Montreal Heart Institute, Montréal, H1T 1C8, Québec, Canada
4Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA
5Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, 48109, Michigan, USA
6Boston, 02115, Divisions of Genetics and Endocrinology and Program in Genomics, Children’s Hospital, Massachusetts, USA
7Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, 02142, Massachusetts, USA
8Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
9Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, Massachusetts, USA
10Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
11Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, 4006, Queensland, Australia
12deCODE Genetics, Reykjavik, 101, Iceland
13Department of Neurology, Boston University School of Medicine, Boston, 02118, Massachusetts, USA
14Department of Nutrition, Harvard School of Public Health, Boston, 02115, Massachusetts, USA
15Icelandic Heart Association, Kopavogur, Iceland
16McGill University and Genome Québec Innovation Centre, Montréal, H3A 1A4, Québec, Canada
17Departments of Epidemiology and Biostatistics, Harvard School of Public Health, Cambridge, 02138, Massachusetts, USA
18Department of Epidemiology and Preventive Medicine, Regensburg University Medical Center, Regensburg, 93053, Germany
19MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge, CB2 0QQ, UK
20Faculty of Land and Environment, University of Melbourne, Parkville, 3010, Australia
21Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging (NCHA), Leiden, 2300 RC, The Netherlands
22Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, SE-75185, Sweden
23Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, 3015 GE, The Netherlands
24Department of Genetics, Washington University School of Medicine, St Louis, 63110, Missouri, USA
25Estonian Genome Center, University of Tartu, Tartu, 50410, Estonia
26Department of Medical Genetics, University of Lausanne, Lausanne, 1005, Switzerland
27Department of Epidemiology, Harvard School of Public Health, Boston, 02115, Massachusetts, USA
28Department of Twin Research and Genetic Epidemiology, King’s College London, Lambeth Palace Road, London, SE1 7EH, UK
29Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg 85764, Germany
30Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, Greifswald, 17487, Germany
31Cardiovascular Health Research Unit and Department of Medicine, University of Washington, Seattle, 98101, Washington, USA
32MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, Western General Hospital, Edinburgh, EH4 2XU, Scotland, UK
33Department of Biological Psychology, VU University Amsterdam, Amsterdam 1081 BT, the Netherlands
34Core Genotyping Facility, SAIC-Frederick, Inc., NCI-Frederick, Frederick, 21702, Maryland, USA
35Department of Epidemiology, School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, 27514, North Carolina, USA
36Andrija Stampar School of Public Health, Medical School, University of Zagreb, Zagreb, 10000, Croatia
37Universität zu Lübeck, Institut für Medizinische Biometrie und Statistik, Lübeck, 23562, Germany
38Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK
39Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 171 77, Sweden
40Center for Human Genomics, Wake Forest University, Winston-Salem, 27157, North Carolina, USA
41Neurogenetics Laboratory, Queensland Institute of Medical Research, 4006, Queensland, Australia
42Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki 00014, Finland
43Department of Genome Sciences, University of Washington, Seattle, 98195, Washington, USA
44Division of Preventive Medicine, Brigham and Women’s Hospital, Boston, 02215, Massachusetts, USA
45Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, 02115, Massachusetts, USA
46Department of Epidemiology and Biostatistics, School of Public Health, Faculty of Medicine, Imperial College London, London, W2 1PG, UK
47Centre for Genetic Epidemiology and Biostatistics, University of Western Australia, Crawley, 6009, Western Australia, Australia
48Royal National Hospital for Rheumatic Diseases and University of Bath, Bath, BA1 1RL, UK
49Department of Medicine, University of Maryland School of Medicine, Baltimore, 21201, Maryland, USA
50Genetics Department, Rosetta Inpharmatics, a Wholly Owned Subsidiary of Merck & Co Inc., Seattle, 98109, Washington, USA
51Department of Internal Medicine, University of Oulu, Oulu, 90014, Finland
52Division of Gastroenterology, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
53Stanford University School of Medicine, Stanford, 93405, California, USA
54Department of Internal Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, 413 45, Sweden
55Departments of Biostatistics, University of Washington, Seattle, 98195, Washington, USA
56Department of Biostatistics, Boston University School of Public Health, Boston, 02118, Massachusetts, USA
57Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
58Department of Cardiovascular Sciences, University of Leicester, Glenfield Hospital, Leicester, LE3 9QP, UK
59Department of Medicine, University of Milan, Surgery and Dentistry, Milan, 20139, Italy
60Istituto di Neurogenetica e Neurofarmacologia del CNR, Monserrato, 09042 Cagliari, Italy.,
61Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, LE3 9QP, UK
62Department of Clinical Sciences, Lund University Diabetes Centre, Lund University, Malmö, 20502, Sweden
63Multidisciplinary Cardiovascular Research Centre, Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, LS2 9JT, UK
64Centre for Population Health Sciences, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, Scotland, UK.,
65Division of Nephrology and Dialysis, University Vita-Salute San Raffaele, Milan, 20132, Italy
66Institute of Genetic Medicine, European Academy Bozen/Bolzano (EURAC), Bolzano/Bozen, 39100, Italy. Affiliated Institute of the University of Lübeck, Lübeck, Germany
67British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, G12 8TA, UK
68Northshore University Healthsystem, Evanston, 60201, Illinois, USA
69Cardiovascular Epidemiology and Genetics, Institut Municipal D’investigacio Medica and CIBER Epidemiología y Salud Pública, Barcelona, Spain
70Department of General Practice and Primary Health Care, University of Helsinki, Helsinki, 00014, Finland
71Center for Neurobehavioral Genetics, University of California, Los Angeles, 90095, California, USA
72Hypertension and Cardiovascular Prevention Center, University of Sassari, Sassari, 07100, Italy
73Department of Clinical Sciences/Obstetrics and Gynecology, University of Oulu, 90014, Oulu, Finland
74Department of Chronic Disease Prevention, National Institute for Health and Welfare, Chronic Disease Epidemiology and Prevention Unit, Helsinki, 00014, Finland
75Department of Chronic Disease Prevention, National Institute for Health and Welfare, Population Studies Unit, Turku, 20720, Finland
76National Institute for Health and Welfare, Helsinki, 00271, Finland
77Institute of Health Sciences, University of Oulu, Oulu, 90014, Finland
78Interdisciplinary Centre for Clinical Research, University of Leipzig, Leipzig, 04103, Germany
79Finnish Institute of Occupational Health, 90220 Oulu, Finland
80Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore
81Transplantation Laboratory, Haartman Institute, University of Helsinki, Helsinki, 00014, Finland
82Croatian Centre for Global Health, School of Medicine, University of Split, Split, 21000, Croatia
83Department of Pathology and Molecular Medicine, McMaster University, Hamilton, L8N 3Z5, Ontario, Canada
84Amgen, Cambridge, 02139, Massachusetts, USA
85Institut für Klinische Chemie und Laboratoriumsmedizin, Universität Greifswald, Greifswald, 17475, Germany
86Department of Public Health, Finnish Twin Cohort Study, University of Helsinki, Helsinki, 00014, Finland
87Department of Clinical Sciences, Lund University, Malmö 20502, Sweden
88Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, 90048, California, USA
89Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK
90Institut für Community Medicine, Greifswald, 17489, Germany
91Division of Cardiology, Cardiovascular Laboratory, Helsinki University Central Hospital, Helsinki, 00029, Finland
92Department of Psychiatry/EMGO Institute, VU University Medical Center, Amsterdam, 1081 BT, The Netherlands
93Department of Physiatrics, Lapland Central Hospital, Rovaniemi, 96101, Finland
94Department of Social Medicine, Avon Longitudinal Study of Parents and Children (ALSPAC) Laboratory, University of Bristol, Bristol, BS8 2BN, UK
95Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia
96Comprehensive Cancer Center East, Nijmegen, 6501 BG, The Netherlands
97Department of Molecular Genetics, PathWest Laboratory of Western Australia, J Block, QEII Medical Centre, Nedlands, 6009, Western Australia, Australia
98Department of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, 90033, California, USA
99Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland
100National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA
101Department of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands
102Department of Medicine, Atherosclerosis Research Unit, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, 171 76, Sweden
103Division of Research, Kaiser Permanente Northern California, Oakland, 94612, California, USA
104Department of Clinical Physiology, University of Tampere and Tampere University Hospital, Tampere, 33520, Finland
105Zentrum für Zahn-, Mund- und Kieferheilkunde, Greifswald, 17489, Germany
106Laboratory of Epidemiology, Demography, Biometry, National Institute on Aging, National Institutes of Health, Bethesda, 20892, Maryland, USA
107Department of Clinical Chemistry, University of Tampere and Tampere University Hospital, Tampere, 33520, Finland
108Department of Medicine, Division of Geriatrics, University of Mississippi Medical Center, Jackson, 39216, Mississippi, USA
109Busselton Population Medical Research Foundation Inc., Sir Charles Gairdner Hospital, Nedlands, 6009, Western Australia, Australia
110Framingham Heart Study of the National Heart, Lung, and Blood Institute and Boston University, Framingham, 01702, Massachusetts, USA
111Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, 3015 GE, The Netherlands
112University of Turku and the Department of Clinical Physiology, Research Centre of Applied and Preventive Cardiovascular Medicine, Turku University Hospital, Turku, 20520, Finland
113Department of Medicine, Université de Montréal, Montréal, H3T 1J4, Québec, Canada
114Department of Psychiatry, Obesity Research unit, Helsinki University Central Hospital, Helsinki, Finland
115Universität zu Lübeck, Medizinische Klinik II, Lübeck, 23562, Germany
116Cardiovascular Health Research Unit, University of Washington, Seattle, 98101, Washington, USA
117Department of Medicine, University of Leipzig, Leipzig, 04103, Germany
118National Institute for Health and Welfare, Diabetes Prevention Unit, Helsinki, 00271, Finland
119Department of Human Genetics and Center of Medical Systems Biology, Leiden University Medical Center, Leiden, 2333 ZC, the Netherlands
120Department of Medicine, University of Turku and Turku University Hospital, Turku, 20520, Finland
121Department of Psychiatry and Midwest Alcoholism Research Center, Washington University School of Medicine, St Louis, 63108, Missouri, USA
122Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, 4006, Queensland, Australia
123Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, 4006, Queensland, Australia
124Department of Forensic Molecular Biology, Erasmus Medical Centre, Rotterdam, 3015 GE, The Netherlands
125Human Genetics Center and Institute of Molecular Medicine and Division of Epidemiology, University of Texas Health Science Center, Houston, 77030, Texas, USA
126Klinik und Poliklinik für Innere Medizin II, Universität Regensburg, Regensburg, 93053, Germany
127Centre National de Genotypage, Evry, Paris 91057, France.,
128Institute for Clinical Molecular Biology and Department of Internal Medicine I, Christian-Albrechts-University, University Hospital Schleswig-Holstein, Schittenhelmstrasse 12, Kiel, 24105, Germany
129Genetics Division, GlaxoSmithKline, King of Prussia, 19406, Pennsylvania, USA
130Department of Medicine, Stanford University School of Medicine, Stanford, 94305, California, USA
131Department of Genetics, University of North Carolina, Chapel Hill, 27599, North Carolina, USA
132Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK
133University of Iceland, Reykjavik, 101, Iceland
134New York University Medical Center, New York, 10016, New York, USA
135Department of Cardiovascular Medicine, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, UK
136Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, 10461, New York, USA
137Laboratory of Genetics, National Institute on Aging, Baltimore, 21224, Maryland, USA
138Division of Community Health Sciences, St George’s, University of London, London, SW17 0RE, UK
139Ludwig-Maximilians-Universität, Institute of Medical Informatics, Biometry and Epidemiology, Chair of Epidemiology, Munich, 81377, Germany
140Division of Biostatistics,Washington University School of Medicine, St Louis, 63110, Missouri, USA
141Pacific Biosciences, Menlo Park, 94025, California, USA
142Faculty of Medicine, University of Iceland, Reykjavík, 101, Iceland
143The Broad Institute of Harvard and MIT, Cambridge, 02142, Massachusetts, USA
144Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
145Department of Genetics, Harvard Medical School, Boston, 02115, Massachusetts, USA

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Tài liệu tham khảo

Hindorff, L. A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362–9367 (2009)

Galton, F. Regression towards mediocrity in hereditary stature. J. R. Anthropol. Inst. 5, 329–348 (1885)

Fisher, R. A. The correlation between relatives on the supposition of Mendelian inheritance. Trans. R. Soc. Edinb. 52, 399–433 (1918)

Frazer, K. A. et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851–861 (2007)

Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997–1004 (1999)

Reich, D. E. & Goldstein, D. B. Detecting association in a case-control study while correcting for population stratification. 20, 4–16 (2001)

Campbell, C. D. et al. Demonstrating stratification in a European American population. Nature Genet. 37, 868–872 (2005)

Manolio, T. A. et al. Finding the missing heritability of complex diseases. Nature 461, 747–753 (2009)

Visscher, P. M. et al. Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet. 2, e41 (2006)

Weedon, M. N. et al. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature Genet. 39, 1245–1250 (2007)

Weedon, M. N. et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genet. 40, 575–583 (2008)

Sanna, S. et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nature Genet. 40, 198–203 (2008)

Lettre, G. et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genet. 40, 584–591 (2008)

Soranzo, N., Rivadeneira, F., Chinappen-Horsley, U. & Malkina, I. Meta-analysis of genome-wide scans for human adult stature in humans identifies novel loci and associations with measures of skeletal frame size. PLoS Genet. 5, e1000445 (2009)

Gudbjartsson, D. F. et al. Many sequence variants affecting diversity of adult human height. Nature Genet. 40, 609–615 (2008)

Johansson, A. et al. Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum. Mol. Genet. 18, 373–380 (2009)

Estrada, K. et al. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum. Mol. Genet. 18, 3516–3524 (2009)

Purcell, S. M. et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748–752 (2009)

Park, J. H. et al. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nature Genet. 42, 570–575 (2010)

Raychaudhuri, S. et al. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 5, e1000534 (2009)

Segrè, A. V. et al. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet. 6, e1001058 (2010)

Neptune, E. R. et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nature Genet. 33, 407–411 (2003)

Superti-Furga, A. & Unger, S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am. J. Med. Genet. A 143, 1–18 (2007)

Kofoed, E. M. et al. Growth hormone insensitivity associated with a STAT5b mutation. N. Engl. J. Med. 349, 1139–1147 (2003)

Weinstein, M., Xu, X., Ohyama, K. & Deng, C. X. FGFR-3 and FGFR-4 function cooperatively to direct alveogenesis in the murine lung. Development 125, 3615–3623 (1998)

Goldstein, D. B. Common genetic variation and human traits. N. Engl. J. Med. 360, 1696–1698 (2009)

Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H. & Goldstein, D. B. Rare variants create synthetic genome-wide associations. PLoS Biol. 8, e1000294 (2010)

Yang, J. et al. Common SNPs explain a large proportion of the heritability for human height. Nature Genet. 42, 565–569 (2010)

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Nature

Tập 467 Số 7317

832-838

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