ArticlemedRxiv : the preprint server for health sciences2023
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
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227 authors at 20 institutions in 25 countries.
Katherine A KentistouMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Lena R KaisingerMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Stasa StankovicMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Marc VaudelMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, NO-5020, Bergen, Norway.
Edson M de OliveiraUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.
Andrea MessinaDivision of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Robin G WaltersNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK.
Xiaoxi LiuLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Alexander S BuschDepartment of General Pediatrics, University of Münster, Münster, Germany.
Hannes HelgasondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Deborah J ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Federico SantonDivision of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Konstantin M PetricekCharité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Pharmacology, Berlin, Germany.
Yassine ZouaghiDivision of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Isabel Huang-DoranUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.
Daniel F GudbjartssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Eirik BratlandMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, NO-5020, Bergen, Norway.
Kuang LinNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK.
Eugene J GardnerMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Yajie ZhaoMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Raina JiaMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Margie RigganDepartment of Gynecology, Duke University Medical Center, Durham, North Carolina, USA.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Mojgan YazdanpanahResearch Center of the Sainte-Justine University Hospital, University of Montreal, Montreal, Quebec, Canada.
Nahid YazdanpanahResearch Center of the Sainte-Justine University Hospital, University of Montreal, Montreal, Quebec, Canada.
Jonath P BradfieldQuantinuum Research, Wayne, PA, USA.
Linda BroerDepartment of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands.
Archie CampbellCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh, UK.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA.
Diana L CousminerDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nora FranceschiniDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Lude H FrankeDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Giorgia GirottoInstitute for Maternal and Child Health - IRCCS ''Burlo Garofolo", Trieste, Italy.
Chunyan HeDepartment of Epidemiology and Biostatistics, Department of Big Data in Health Science, School of Public Health, Zhejiang University School of Medicine, Hangzhou 310058, China.
Marjo-Riitta JärvelinDepartment of Epidemiology and Biostatistics, MRC Health Protection Agency (HPA) Centre for Environment and Health, School of Public Health, Imperial College London, UK.
Peter K JoshiCentre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, Scotland.
Yoichiro KamataniLaboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Robert KarlssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Kathryn L LunettaBoston University School of Public Health, Department of Biostatistics. Boston, Massachusetts 02118, USA.
Reedik MägiInstitute of Genomics, University of Tartu, Tartu, Estonia.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Christa MeisingerEpidemiology, Medical Faculty, University of Augsburg, University Hospital of Augsburg, Augsburg, Germany.
Raymond NoordamDepartment of Internal Medicine, Section of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, The Netherlands.
Teresa NutileInstitute of Genetics and Biophysics "A. Buzzati-Traverso", CNR, Naples, Italy.
Maria Pina ConcasInstitute for Maternal and Child Health - IRCCS ''Burlo Garofolo", Trieste, Italy.
Ozren PolašekUniversity of Split School of Medicine, Split, Croatia.
Eleonora PorcuInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Sardinia 09042, Italy.
Susan M RingMRC Integrative Epidemiology Unit at the University of Bristol, UK.
Cinzia SalaDivision of Genetics and Cell Biology, San Raffele Hospital, Milano, Italy.
Albert V SmithIcelandic Heart Association, 201 Kopavogur, Iceland.
Toshiko TanakaNational Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA.
Peter J van der MostDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, The Netherlands.
Veronique VitartMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
Carol A WangSchool of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales 2308, Australia.
Gonneke WillemsenDept of Biological Psychology, Vrije Universiteit, Amsterdam; Amsterdam Public Health (APH) research institute, The Netherlands.
Marek ZygmuntClinic of Gynaecology and Obstetrics, University Medicine Greifswald, Germany.
Thomas U AhearnDivision of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services Bethesda, MD, USA.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto, Ontario, Canada.
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute University of California Irvine Irvine, CA, USA.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Paul L AuerDivision of Biostatistics, Institute for Health and Equity, and Cancer Center Medical College of Wisconsin Milwaukee, WI, USA.
Catriona Lk BarnesCentre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, Scotland.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Amy BerringtonDivision of Genetics and Epidemiology The Institute of Cancer Research, London, UK.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital Copenhagen University Hospital, Herlev, Denmark.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ), Heidelberg, Germany.
Julie E BuringDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA.
Federico CanzianGenomic Epidemiology Group German Cancer Research Center (DKFZ), Heidelberg, Germany.
Jenny Chang-ClaudeDivision of Cancer Epidemiology German Cancer Research Center (DKFZ), Heidelberg, Germany.
Fergus J CouchDepartment of Laboratory Medicine and Pathology Mayo Clinic Rochester, MN, USA.
Angela CoxSheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Laura CrisponiInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Sardinia 09042, Italy.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics Fox Chase Cancer Center Philadelphia, PA, USA.
Ellen W DemerathDivision of Epidemiology and Community Health, School of Public Health, University of Minnesota, USA.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Immaculata De VivoDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Miriam DwekSchool of Life Sciences, University of Westminster, London, UK.
Johan G ErikssonDepartment of General Practice and Primary Healthcare, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Lindsay Fernandez-RhodesDepartment of Biobehavioral Health, Pennsylvania State University, University Park, PA, USA.
Liana FerreliInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Sardinia 09042, Italy.
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Manuela Gago-DominguezGenomic Medicine Group, International Cancer Genetics and Epidemiology Group Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS Santiago de Compostela, Spain.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services Bethesda, MD, USA.
José A García-SáenzMedical Oncology Department, Hospital Clínico San Carlos Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Anna González-NeiraHuman Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Harald GrallertResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Pascal GuénelTeam "Exposome and Heredity", CESP, Gustave Roussy INSERM, University Paris-Saclay, UVSQ Villejuif, France.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Roger J HartDivision of Obstetrics and Gynaecology, University of Western Australia, Western Australia, Australia.
Martha HickeyDepartment of Obstetrics and Gynaecology at the University of Melbourne and The Royal Women's Hospital, Victoria, Australia.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne Melbourne, Victoria, Australia.
Jouke-Jan HottengaDept of Biological Psychology, Vrije Universiteit, Amsterdam; Amsterdam Public Health (APH) research institute, The Netherlands.
Frank B HuDepartment of Nutrition, Harvard T.H. Chan School of Public Health School of Public Health, Boston, Massachusetts 02115, USA.
Hanna HübnerDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
David J HunterDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
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Helena JernströmOncology, Department of Clinical Sciences in Lund, Lund University, Lund, Sweden.
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine Stanford, CA, USA.
David KarasikHebrew SeniorLife Institute for Aging Research, Boston, Massachusetts, USA.
Elza K KhusnutdinovaInstitute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Vessela N KristensenDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
James V LaceyDepartment of Computational and Quantitative Medicine, City of Hope Duarte, CA, USA.
Diether LambrechtsLaboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Lenore J LaunerLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, Maryland, 20892, USA.
Penelope A LindQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Patrik Ke MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Mark I McCarthyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Thomas MeitingerInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
Cristina MenniDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Iona Y MillwoodNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK.
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Grant W MontgomeryInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Ilja M NolteDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Dale R NyholtSchool of Biomedical Sciences, Faculty of Health, Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Queensland, Australia.
Nadia ObiInstitute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Katie M O'BrienEpidemiology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, NC, USA.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics Memorial Sloan Kettering Cancer Center New York, NY, USA.
Albertine J OldehinkelInterdisciplinary Center Psychopathology and Emotion Regulation, University Medical Center Groningen, University of Groningen, The Netherlands.
Sisse R OstrowskiDepartment of Clinical Immunology, Rigshospitalet - University of Copenhagen, Copenhagen, Denmark.
Aarno PalotiePsychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Ole B PedersenDepartment of Clinical Immunology, Zealand University Hospital, Køge, Denmark.
Annette PetersInstitute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Giulia PianigianiInstitute for Maternal and Child Health - IRCCS ''Burlo Garofolo", Trieste, Italy.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov" MASA Skopje Republic of North Macedonia.
Anneli PoutaNational Institute for Health and Welfare, Finland.
Alfred PozarickijNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research Fondazione IRCCS, Istituto Nazionale dei Tumori (INT), Milan, Italy.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion, Faculty of Medicine, Haifa, Israel.
Frits R RosendaalDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
Daniela RuggieroInstitute of Genetics and Biophysics "A. Buzzati-Traverso", CNR, Naples, Italy.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Dale P SandlerEpidemiology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, NC, USA.
Sabine SchipfInstitute for Community Medicine, University Medicine Greifswald, Germany.
Carsten O SchmidtInstitute for Community Medicine, University Medicine Greifswald, Germany.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Kerrin SmallDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Beatrice SpedicatiDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Meir StampferDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
Jennifer StoneGenetic Epidemiology Group, School of Population and Global Health, University of Western Australia Perth, Western Australia, Australia.
Rulla M TamimiDepartment of Population Health Sciences Weill Cornell Medicine New York, NY, USA.
Lauren R TerasDepartment of Population Science American Cancer Society Atlanta, GA, USA.
Emmi TikkanenPublic Health Genomics Unit, Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland.
Constance TurmanDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
Celine M VachonDepartment of Quantitative Health Sciences, Division of Epidemiology Mayo Clinic Rochester, MN, USA.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Babette S ZemelDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center Vanderbilt University School of Medicine Nashville, TN, USA.
Ko W van DijkDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Behrooz Z AlizadehDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Stefania BandinelliGeriatric Unit, Local Health Toscana Centro, Florence, Italy.
Eric BoerwinkleHuman Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA.
Dorret I BoomsmaDept of Biological Psychology, Vrije Universiteit, Amsterdam; Amsterdam Public Health (APH) research institute, The Netherlands.
Marina CiulloInstitute of Genetics and Biophysics "A. Buzzati-Traverso", CNR, Naples, Italy.
Georgia Chenevix-TrenchQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Francesco CuccaInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Sardinia 09042, Italy.
Tõnu EskoInstitute of Genomics, University of Tartu, Tartu, Estonia.
Christian GiegerResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Struan Fa GrantDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Vilmundur GudnasonIcelandic Heart Association, 201 Kopavogur, Iceland.
Caroline HaywardMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
Ivana KolčićUniversity of Split School of Medicine, Split, Croatia.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
Deborah A LawlorMRC Integrative Epidemiology Unit at the University of Bristol, UK.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Ellen A NøhrInstitute of Clinical Research, University of Southern Denmark, Department of Obstetrics & Gynecology, Odense University Hospital, Denmark.
Nancy L PedersenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Craig E PennellSchool of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales 2308, Australia.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA.
Antonietta RobinoInstitute for Maternal and Child Health - IRCCS ''Burlo Garofolo", Trieste, Italy.
Harold SniederDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Ulla SovioDepartment of Epidemiology and Biostatistics, MRC Health Protection Agency (HPA) Centre for Environment and Health, School of Public Health, Imperial College London, UK.
Tim D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Doris StöcklGesundheitsamt Fürstenfeldbruck, Regierung von Oberbayern, Fürstenfeldbruck, Germany.
Cathie SudlowCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh, UK.
Nic J TimpsonMRC Integrative Epidemiology Unit at the University of Bristol, UK.
Daniela TonioloDivision of Genetics and Cell Biology, San Raffele Hospital, Milano, Italy.
André UitterlindenDepartment of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands.
Sheila UliviInstitute for Maternal and Child Health - IRCCS ''Burlo Garofolo", Trieste, Italy.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Germany.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Elisabeth WidenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
James F WilsonCentre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, Scotland.
Lifelines Cohort Study
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Paul Dp PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Liming LiDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Pål NjølstadMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, NO-5020, Bergen, Norway.
Patrick SulemdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Joanne M MurabitoNHLBI's and Boston University's Framingham Heart Study, Framingham, Massachusetts 01702-5827, USA.
Anna MurrayGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.
Despoina ManousakiResearch Center of the Sainte-Justine University Hospital, University of Montreal, Montreal, Quebec, Canada.
Anders JuulDepartment of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
Kari StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Momoko HorikoshiLaboratory for Genomics of Diabetes and Metabolism, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Zhengming ChenNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK.
I Sadaf FarooqiUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.
Nelly PitteloudDivision of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Stefan JohanssonMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, NO-5020, Bergen, Norway.
Felix R DayMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
John Rb PerryMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Ken K OngMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
University of Cambridge · GBChildren's Hospital of Philadelphia · USUniversity Medical Center Groningen · NLBrigham and Women's Hospital · USHarvard University · USdeCODE Genetics (Iceland) · ISKing's College London · GBUniversity of Helsinki · FINational Institutes of Health · USUniversitätsmedizin Greifswald · DEIRCCS Materno Infantile Burlo Garofolo · ITKarolinska Institutet · SELeiden University Medical Center · NLUniversity of Lausanne · CHBroad Institute · USEdinburgh Cancer Research · GBGerman Cancer Research Center · DEHaukeland University Hospital · NOQIMR Berghofer Medical Research Institute · AUUniversität Hamburg · DE
Funding
Medical Research Council MC_UU_00007/10
Abstract
Pubertal timing varies considerably and has been associated with a range of health outcomes in later life. To elucidate the underlying biological mechanisms, we performed multi-ancestry genetic analyses in ~800,000 women, identifying 1,080 independent signals associated with age at menarche. Collectively these loci explained 11% of the trait variance in an independent sample, with women at the top and bottom 1% of polygenic risk exhibiting a ~11 and ~14-fold higher risk of delayed and precocious pubertal development, respectively. These common variant analyses were supported by exome sequence analysis of ~220,000 women, identifying several genes, including rare loss of function variants in
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