Evidence map›Paper›PMID 25231870›Full record

ArticleNature2014

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

John Rb Perry, Felix Day, Cathy E Elks, Patrick Sulem, Deborah J Thompson, Teresa Ferreira, Chunyan He, Daniel I Chasman, Tõnu Esko, Gudmar Thorleifsson and 194 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 354 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
354citing papers in PubMed, 8 pooled it
41.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

354 citing papers in PubMed, 8 syntheses or guidelines pooled it, 657 citations in OpenAlex.

  1. Pooled it
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  4. Pooled it
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  9. Article
  10. Article
  11. Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026
    Review
  12. Article
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  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Effects of early menarche on adolescent health: a single-centre retrospective study.Pediatric endocrinology, diabetes, and metabolism · 2026
    Article

294 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

204 authors at 20 institutions in 17 countries.

John Rb Perry *MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Felix Day *MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Cathy E Elks *MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Patrick Sulem *deCODE Genetics, Reykjavik, Iceland.
Deborah J ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.
Teresa FerreiraWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Chunyan HeDepartment of Epidemiology, Indiana University Richard M. Fairbanks School of Public Health, Indianapolis, IN 46202, USA.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02215.
Tõnu EskoEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Gudmar ThorleifssondeCODE Genetics, Reykjavik, Iceland.
Eva AlbrechtInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Wei Q AngSchool of Women's and Infants' Health, The University of Western Australia.
Tanguy CorreDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Diana L CousminerInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, DK-2300 Copenhagen, Denmark.
Nora FranceschiniDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC.
Andrea GannaDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Andrew D JohnsonNHLBI's and Boston University's Framingham Heart Study, Framingham, MA.
Sanela KjellqvistScience for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
Kathryn L LunettaNHLBI's and Boston University's Framingham Heart Study, Framingham, MA.
George McMahonMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Ilja M NolteDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Lavinia PaternosterMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Eleonora PorcuInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Italy.
Albert V SmithIcelandic Heart Association, Kopavogur, Iceland.
Lisette StolkDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands.
Alexander TeumerInterfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, 17475 Greifswald, Germany.
Natalia TšernikovaEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Emmi TikkanenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
Sheila UliviInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.
Erin K WagnerDepartment of Epidemiology, Indiana University Richard M. Fairbanks School of Public Health, Indianapolis, IN 46202, USA.
Najaf AminGenetic Epidemiology Unit Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Laura J BierutDept. of Psychiatry, Washington University, St. Louis, MO 63110.
Enda M ByrneThe University of Queensland, Queensland Brain Institute, St.Lucia, QLD, Australia.
Jouke-Jan HottengaDepartment of Biological Psychology, VU University Amsterdam, van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Daniel L KollerDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana USA.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Tune H PersDivisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA.
Laura M Yerges-ArmstrongProgram in Personalized and Genomic Medicine, and Department of Medicine, Division of Endocrinology, Diabetes and Nutrition - University of Maryland School of Medicine, USA. Baltimore, MD 21201.
Jing Hua ZhaoMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Irene L AndrulisOntario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, California, USA.
Femke AtsmaSanquin Research, Nijmegen, The Netherlands.
Stefania BandinelliTuscany Regional Health Agency, Florence, Italy, I.O.T. and Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy.
Matthias W BeckmannUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Javier BenitezHuman Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Carl BlomqvistDepartment of Oncology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart.
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, Boston, MA 02215.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephen ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Jinhui ChenDepartments of Anatomy and Neurological Surgery, Indiana University school of Medicine, Indianapolis, IN 46202, USA.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
J Margriet ColléeDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
David CouperDepartment of Biostatistics, University of North Carolina, Chapel Hill, NC.
Andrea D CoveilloBoston University School of Medicine, Department of Medicine, Sections of Preventive Medicine and Endocrinology, Boston, MA.
Angela CoxSheffield Cancer Research Centre, Department of Oncology, University of Sheffield, Sheffield, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Adamo Pio D'adamoInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.
George Davey SmithMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Immaculata De VivoDepartment of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Ellen W DemerathDivision of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, Minn., USA.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.
Peter DevileeDepartment of Human Genetics & Department of Pathology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
Aida K DieffenbachDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK.
Gudny EiriksdottirIcelandic Heart Association, Kopavogur, Iceland.
Johan G ErikssonNational Institute for Health and Welfare, Finland.
Peter A FaschingUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Luigi FerrucciLongitudinal Studies Section, Clinical Research Branch, Gerontology Research Center, National Institute on Aging, Baltimore, Maryland, United States of America.
Dieter Flesch-JanysDepartment of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana USA.
Lude FrankeDepartment of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Melissa E GarciaNational Insitute on Aging, National Institutes of Health, Baltimore, MD 20892, USA.
Montserrat García-ClosasDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
Frank GellerDepartment of Epidemiology Research, Statens Serum Institut, DK-2300 Copenhagen, Denmark.
Eco Ej de GeusDepartment of Biological Psychology, VU University Amsterdam, van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.
Daniel F GudbjartssondeCODE Genetics, Reykjavik, Iceland.
Vilmundur GudnasonIcelandic Heart Association, Kopavogur, Iceland.
Pascal GuénelInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France.
Suiqun GuoDepartment of Obstetrics and Gynecology, Southern Medical University, Guangzhou, China.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany.
Robin HaringInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, 17475 Greifswald, Germany.
Catharina A HartmanDepartment of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Andrew C HeathWashington University, Department of Psychiatry, St.Louis, Missouri, USA.
Albert HofmanDepartment of Epidemiology, Erasmus MC, Rotterdan, the Netherlands.
Maartje J HooningDepartment of Medical Oncology, Erasmus University Medical Center, Rotterdam, The Netherlands.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Frank B HuDepartment of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
David J HunterBroad Institute of the Massachusetts Institute of Technology and Harvard University, 140 Cambridge 02142, MA, USA.
David KarasikHarvard Medical School, Boston, MA 02115.
Douglas P KielHebrew SeniorLife Institute for Aging Research, Boston, MA.
Julia A KnightLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Veli-Matti KosmaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
Zoltan KutalikDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Sandra LaiInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Italy.
Diether LambrechtsVesalius Research Center (VRC), VIB, Leuven, Belgium.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Reedik MägiEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Patrik K MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Arto MannermaaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
Nicholas G MartinDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Gisli MassondeCODE Genetics, Reykjavik, Iceland.
Patrick F McArdleProgram in Personalized and Genomic Medicine, and Department of Medicine, Division of Endocrinology, Diabetes and Nutrition - University of Maryland School of Medicine, USA. Baltimore, MD 21201.
Wendy L McArdleSchool of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
Mads MelbyeDepartment of Epidemiology Research, Statens Serum Institut, DK-2300 Copenhagen, Denmark.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.
Evelin MihailovEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Lili MilaniEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Roger L MilneCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Patrick NevenKULeuven (University of Leuven), Department of Oncology, Multidisciplinary Breast Center, University Hospitals Leuven, Belgium.
Ellen A NohrResearch Unit of Obstetrics & Gynecology, Institute of Clinical Research, University of Southern denmark, DK.
Albertine J OldehinkelInterdisciplinary Center Psychopathology and Emotion Regulation, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Ben A OostraGenetic Epidemiology Unit Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
Munro PeacockDepartment of Medicine, Indiana University School of Medicine, Indianapolis, Indiana USA.
Nancy L PedersenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Paolo PeterlongoIFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.
Julian PetoNon-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK.
Paul Dp PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK.
Dirkje S PostmaUniversity Groningen, University Medical Center Groningen, Department Pulmonary Medicine and Tuberculosis, GRIAC Research Institute, Groningen, The Netherlands.
Anneli PoutaNational Institute for Health and Welfare, Finland.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu University Hospital/NordLab Oulu, Oulu, Finland.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Susan RingMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands.
Antonietta RobinoInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.
Lynda M RoseDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02215.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Veikko SalomaaNational Institute for Health and Welfare, Finland.
Serena SannaInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Italy.
David SchlessingerNational Institute on Aging, Intramural Research Program, Baltimore, MD, USA.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Mellissa C SoutheyDepartment of Pathology, The University of Melbourne, Melbourne, Australia.
Ulla SovioDepartment of Epidemiology and Biostatistics, MRC Health Protection Agency (HPA) Centre for Environment and Health, School of Public Health, Imperial College London, UK.
Meir J StampferDepartment of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Doris StöcklInstitute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Anna M StornioloDepartment of Medicine, Indiana University School of Medicine, Indianapolis, Indiana USA.
Nicholas J TimpsonMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Jonathan TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK.
Jenny A VisserDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands.
Peter VollenweiderDepartment of Internal Medicine, Lausanne University Hospital, Lausanne, Switzerland.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, 17475 Greifswald, Germany.
Gerard WaeberDepartment of Internal Medicine, Lausanne University Hospital, Lausanne, Switzerland.
Melanie WaldenbergerResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Henri WallaschofskiInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, 17475 Greifswald, Germany.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.
Gonneke WillemsenDepartment of Biological Psychology, VU University Amsterdam, van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu University Hospital/NordLab Oulu, Oulu, Finland.
Bruce Hr WolffenbuttelDepartment of Endocrinology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Margaret J WrightQueensland Insitute of Medical Research, Brisbane, Queensland, Australia.
Australian Ovarian Cancer Study
GENICA Network
kConFab
LifeLines Cohort Study
InterAct Consortium
Early Growth Genetics (EGG) Consortium
Dorret I BoomsmaDepartment of Biological Psychology, VU University Amsterdam, van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.
Michael J EconsDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana USA.
Kay-Tee KhawDepartment of Public Health and Primary Care, Institute of Public Health, University of Cambridge, Cambridge, CB2 0QQ, UK.
Ruth Jf LoosMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Mark I McCarthyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Grant W MontgomeryQueensland Insitute of Medical Research, Brisbane, Queensland, Australia.
John P RiceDept. of Psychiatry, Washington University, St. Louis, MO 63110.
Elizabeth A StreetenProgram in Personalized and Genomic Medicine, and Department of Medicine, Division of Endocrinology, Diabetes and Nutrition - University of Maryland School of Medicine, USA. Baltimore, MD 21201.
Unnur ThorsteinsdottirdeCODE Genetics, Reykjavik, Iceland.
Cornelia M van DuijnNetherlands Consortium on Health Aging and National Genomics Initiative, Leiden, the Netherlands.
Behrooz Z AlizadehDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Sven BergmannDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Eric BoerwinkleHuman Genetics Center and Div. of Epidemiology, University of Houston, TX.
Heather A BoydDepartment of Epidemiology Research, Statens Serum Institut, DK-2300 Copenhagen, Denmark.
Laura CrisponiInstitute of Genetics and Biomedical Research, National Research Council, Cagliari, Italy.
Paolo GaspariniInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.
Christian GiegerInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Tamara B HarrisNational Insitute on Aging, National Institutes of Health, Baltimore, MD 20892, USA.
Erik IngelssonDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
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 KraftDepartment of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Debbie LawlorMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Craig E PennellSchool of Women's and Infants' Health, The University of Western Australia.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02215.
Harold SniederDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Thorkild Ia SørensenNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
Tim D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
David P StrachanDivision of Population Health Sciences and Education, St George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
André G UitterlindenDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands.
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, Finland.
Marek ZygmuntDepartment of Obstetrics and Gynecology, University Medicine Greifswald, 17475 Greifswald, Germany.
Anna MurrayUniversity of Exeter Medical School, University of Exeter, Exeter, UK EX1 2LU.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.
Kari Stefansson *deCODE Genetics, Reykjavik, Iceland.
Joanne M Murabito *NHLBI's and Boston University's Framingham Heart Study, Framingham, MA.
Ken K Ong *MRC 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 · GBUniversity Medical Center Groningen · NLBrigham and Women's Hospital · USdeCODE Genetics (Iceland) · ISUniversity of Helsinki · FIStatens Serum Institut · DKBroad Institute · USErasmus MC · NLGerman Cancer Research Center · DEBoston University · USQIMR Berghofer Medical Research Institute · AUUniversity of Maryland, Baltimore · USIndiana University Health · USOulu University Hospital · FISIB Swiss Institute of Bioinformatics · CHThe University of Melbourne · AUUniversitätsmedizin Greifswald · DEUniversity of Bristol · GBUniversity of Copenhagen · DKCentre for Human Genetics · GB

Funding

The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Quality Assurance and Quality Control Project Management: Improving Submissions and Study Conduct in the Human Subjects Research Prior Approval ProcessUL1TR002529 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI MOE, SHARON M, WIEHE, SARAH ELIZABETH · 2018 to 2022
$27.2M
Indiana Clinical and Translational Sciences InstituteUL1TR001108 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI DENNE, SCOTT C., SHEKHAR, ANANTHA · 2013 to 2017
$23.3M
PRECURSORS OF STROKE INCIDENCE AND PROGNOSISR01NS017950 · NINDS · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Hugo Javier Aparicio, Jose Rafael Romero · 1985 to 2026
$22.9M
CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control SampleU01AG049505 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI SESHADRI, SUDHA · 2014 to 2017
$3.0M
Identification of genes that affect peak BMD in men and womenR01AG041517 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI ECONS, MICHAEL J · 2011 to 2015
$2.9M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Medical Research Council G0401527Medical Research Council G0701863Medical Research Council G1000143Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_U106179471Medical Research Council MC_U106179472Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12015/1Medical Research Council MC_UU_12015/2Medical Research Council MR/J012165/1NCATS NIH HHS UL1 TR001108NCI NIH HHS P50 CA116201NIA NIH HHS R01 AG041517NIA NIH HHS U01 AG049505NINDS NIH HHS R01 NS017950Wellcome Trust 098381Wellcome Trust 102215
6 · The paper itself

Abstract

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.

Indexed as

AllelesParentsAdolescentAge FactorsBody Mass IndexBreast NeoplasmsCalcium-Binding ProteinsCardiovascular DiseasesChildDiabetes Mellitus, Type 2EuropeFemaleGenetic LociGenome-Wide Association StudyGenomic ImprintingHumansCalcium-Binding ProteinsDLK1 protein, humanIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsIntrinsically Disordered ProteinsKCNK9 protein, humanMAGEL2 protein, humanMembrane ProteinsMKRN3 protein, humanPotassium Channels, Tandem Pore DomainProteinsReceptors, GABA-BReceptors, Retinoic AcidRibonucleoproteinsUbiquitin-Protein LigasesWDR25 protein, human

Identifiers

PMID25231870
PMCPMC4185210
OpenAlexW2155441570

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.