{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T05:19:22Z","timestamp":1782969562032,"version":"3.54.5"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["CA172726, CA186107, CA50385, CA87969, CA49449, CA67262, CA178949"],"award-info":[{"award-number":["CA172726, CA186107, CA50385, CA87969, CA49449, CA67262, CA178949"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The UK Medical Research Council and Wellcome","award":["217065\/Z\/19\/Z"],"award-info":[{"award-number":["217065\/Z\/19\/Z"]}]},{"DOI":"10.13039\/501100000883","name":"University of Bristol","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000883","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["SP\/07\/008\/24066"],"award-info":[{"award-number":["SP\/07\/008\/24066"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome","doi-asserted-by":"publisher","award":["WT092830M and WT08806"],"award-info":[{"award-number":["WT092830M and WT08806"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Medical Research Council","doi-asserted-by":"publisher","award":["G1001357"],"award-info":[{"award-number":["G1001357"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Bristol and UK Medical Research Council","award":["MC_UU_00011\/6"],"award-info":[{"award-number":["MC_UU_00011\/6"]}]},{"name":"UK Medical Research Council Skills Development Fellowship","award":["MR\/P014054\/1"],"award-info":[{"award-number":["MR\/P014054\/1"]}]},{"name":"National Institute of Health Research Senior Investigator","award":["NF-0616-10102"],"award-info":[{"award-number":["NF-0616-10102"]}]},{"name":"study of Dynamic longitudinal exposome trajectories in cardiovascular and metabolic non-communicable diseases","award":["H2020-SC1-2019-Single-Stage-RTD, project ID 874739"],"award-info":[{"award-number":["H2020-SC1-2019-Single-Stage-RTD, project ID 874739"]}]},{"name":"Ministry of Health, Welfare and Sports of the Netherlands"},{"name":"Honours Track of MSc Epidemiology, University Medical Center Utrecht"},{"name":"Netherlands Organization for Scientific Research","award":["022.005.021"],"award-info":[{"award-number":["022.005.021"]}]},{"name":"National Institutes of Health (NIH), DHHS, through the National Institute on Aging (NIA), the National Institute of Nursing Research (NINR) and the NIH Office of Research on Women\u2019s Health","award":["U01NR004061; U01AG012505, U01AG012535, U01AG012531, U01AG012539, U01AG012546, U01AG012553, U01AG012554, U01AG012495"],"award-info":[{"award-number":["U01NR004061; U01AG012505, U01AG012535, U01AG012531, U01AG012539, U01AG012546, U01AG012553, U01AG012554, U01AG012495"]}]},{"DOI":"10.13039\/100000049","name":"NIA","doi-asserted-by":"publisher","award":["U01AG017719"],"award-info":[{"award-number":["U01AG017719"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Breast Cancer Now and the Institute of Cancer Research"},{"name":"NIHR Biomedical Research Centre"},{"name":"Intramural Research Program of the National Institutes of Health (NIH), National Institute of Environmental Health Sciences","award":["Z01-ES044005 to D.P.S."],"award-info":[{"award-number":["Z01-ES044005 to D.P.S."]}]},{"DOI":"10.13039\/100000142","name":"Avon Foundation","doi-asserted-by":"publisher","award":["02-2012-065 to H.B. Nichols and D.P.S."],"award-info":[{"award-number":["02-2012-065 to H.B. Nichols and D.P.S."]}],"id":[{"id":"10.13039\/100000142","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the \u2018Minist\u00e8re de l\u2019\u00c9conomie, de la Science et de l\u2019Innovation du Qu\u00e9bec\u2019 through Genome Qu\u00e9bec","award":["PSR-SIIRI-701"],"award-info":[{"award-number":["PSR-SIIRI-701"]}]},{"DOI":"10.13039\/100000002","name":"The National Institutes of Health","doi-asserted-by":"crossref","award":["U19 CA148065, X01HG007492"],"award-info":[{"award-number":["U19 CA148065, X01HG007492"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C1287\/A10118, C1287\/A16563, C1287\/A10710"],"award-info":[{"award-number":["C1287\/A10118, C1287\/A16563, C1287\/A10710"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The European Union","award":["HEALTH-F2-2009-223175 and H2020 633784 and 634935"],"award-info":[{"award-number":["HEALTH-F2-2009-223175 and H2020 633784 and 634935"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>STUDY QUESTION<\/jats:title>\n                    <jats:p>Can additional genetic variants for circulating anti-M\u00fcllerian hormone (AMH) levels be identified through a genome-wide association study (GWAS) meta-analysis including a large sample of premenopausal women?<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>SUMMARY ANSWER<\/jats:title>\n                    <jats:p>We identified four loci associated with AMH levels at P &amp;lt; 5 \u00d7 10\u22128: the previously reported MCM8 locus and three novel signals in or near AMH, TEX41 and CDCA7.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WHAT IS KNOWN ALREADY<\/jats:title>\n                    <jats:p>AMH is expressed by antral stage ovarian follicles in women, and variation in age-specific circulating AMH levels has been associated with disease outcomes. However, the physiological mechanisms underlying these AMH-disease associations are largely unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY DESIGN, SIZE, DURATION<\/jats:title>\n                    <jats:p>We performed a GWAS meta-analysis in which we combined summary statistics of a previous AMH GWAS with GWAS data from 3705 additional women from three different cohorts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>PARTICIPANTS\/MATERIALS, SETTING, METHODS<\/jats:title>\n                    <jats:p>In total, we included data from 7049 premenopausal female participants of European ancestry. The median age of study participants ranged from 15.3 to 48 years across cohorts. Circulating AMH levels were measured in either serum or plasma samples using different ELISA assays. Study-specific analyses were adjusted for age at blood collection and population stratification, and summary statistics were meta-analysed using a standard error-weighted approach. Subsequently, we functionally annotated GWAS variants that reached genome-wide significance (P &amp;lt; 5 \u00d7 10\u22128). We also performed a gene-based GWAS, pathway analysis and linkage disequilibrium score regression and Mendelian randomization (MR) analyses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>MAIN RESULTS AND THE ROLE OF CHANCE<\/jats:title>\n                    <jats:p>We identified four loci associated with AMH levels at P &amp;lt; 5 \u00d7 10\u22128: the previously reported MCM8 locus and three novel signals in or near AMH, TEX41 and CDCA7. The strongest signal was a missense variant in the AMH gene (rs10417628). Most prioritized genes at the other three identified loci were involved in cell cycle regulation. Genetic correlation analyses indicated a strong positive correlation among single nucleotide polymorphisms for AMH levels and for age at menopause (rg = 0.82, FDR = 0.003). Exploratory two-sample MR analyses did not support causal effects of AMH on breast cancer or polycystic ovary syndrome risk, but should be interpreted with caution as they may be underpowered and the validity of genetic instruments could not be extensively explored.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LARGE SCALE DATA<\/jats:title>\n                    <jats:p>The full AMH GWAS summary statistics will made available after publication through the GWAS catalog (https:\/\/www.ebi.ac.uk\/gwas\/).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LIMITATIONS, REASONS FOR CAUTION<\/jats:title>\n                    <jats:p>Whilst this study doubled the sample size of the most recent GWAS, the statistical power is still relatively low. As a result, we may still lack power to identify more genetic variants for AMH and to determine causal effects of AMH on, for example, breast cancer. Also, follow-up studies are needed to investigate whether the signal for the AMH gene is caused by reduced AMH detection by certain assays instead of actual lower circulating AMH levels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WIDER IMPLICATIONS OF THE FINDINGS<\/jats:title>\n                    <jats:p>Genes mapped to the MCM8, TEX41 and CDCA7 loci are involved in the cell cycle and processes such as DNA replication and apoptosis. The mechanism underlying their associations with AMH may affect the size of the ovarian follicle pool. Altogether, our results provide more insight into the biology of AMH and, accordingly, the biological processes involved in ovarian ageing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY FUNDING\/COMPETING INTEREST(S)<\/jats:title>\n                    <jats:p>Nurses\u2019 Health Study and Nurses\u2019 Health Study II were supported by research grants from the National Institutes of Health (CA172726, CA186107, CA50385, CA87969, CA49449, CA67262, CA178949). The UK Medical Research Council and Wellcome (217065\/Z\/19\/Z) and the University of Bristol provide core support for ALSPAC. This publication is the work of the listed authors, who will serve as guarantors for the contents of this article. A comprehensive list of grants funding is available on the ALSPAC website (http:\/\/www.bristol.ac.uk\/alspac\/external\/documents\/grant-acknowledgements.pdf). Funding for the collection of genotype and phenotype data used here was provided by the British Heart Foundation (SP\/07\/008\/24066), Wellcome (WT092830M and WT08806) and UK Medical Research Council (G1001357). M.C.B., A.L.G.S. and D.A.L. work in a unit that is funded by the University of Bristol and UK Medical Research Council (MC_UU_00011\/6). M.C.B.\u2019s contribution to this work was funded by a UK Medical Research Council Skills Development Fellowship (MR\/P014054\/1) and D.A.L. is a National Institute of Health Research Senior Investigator (NF-0616-10102). A.L.G.S. was supported by the study of Dynamic longitudinal exposome trajectories in cardiovascular and metabolic non-communicable diseases (H2020-SC1-2019-Single-Stage-RTD, project ID 874739). The Doetinchem Cohort Study was financially supported by the Ministry of Health, Welfare and Sports of the Netherlands. The funder had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript. Ansh Labs performed the AMH measurements for the Doetinchem Cohort Study free of charge. Ansh Labs was not involved in the data analysis, interpretation or reporting, nor was it financially involved in any aspect of the study. R.M.G.V. was funded by the Honours Track of MSc Epidemiology, University Medical Center Utrecht with a grant from the Netherlands Organization for Scientific Research (NWO) (022.005.021). The Study of Women's Health Across the Nation (SWAN) has grant support from the National Institutes of Health (NIH), DHHS, through the National Institute on Aging (NIA), the National Institute of Nursing Research (NINR) and the NIH Office of Research on Women\u2019s Health (ORWH) (U01NR004061; U01AG012505, U01AG012535, U01AG012531, U01AG012539, U01AG012546, U01AG012553, U01AG012554, U01AG012495). The SWAN Genomic Analyses and SWAN Legacy have grant support from the NIA (U01AG017719). The Generations Study was funded by Breast Cancer Now and the Institute of Cancer Research (ICR). The ICR acknowledges NHS funding to the NIHR Biomedical Research Centre. The content of this manuscript is solely the responsibility of the authors and does not necessarily represent official views of the funders. The Sister Study was funded by the Intramural Research Program of the National Institutes of Health (NIH), National Institute of Environmental Health Sciences (Z01-ES044005 to D.P.S.); the AMH assays were supported by the Avon Foundation (02-2012-065 to H.B. Nichols and D.P.S.). The breast cancer genome-wide association analyses were supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the \u2018Minist\u00e8re de l\u2019\u00c9conomie, de la Science et de l\u2019Innovation du Qu\u00e9bec\u2019 through Genome Qu\u00e9bec and grant PSR-SIIRI-701, The National Institutes of Health (U19 CA148065, X01HG007492), Cancer Research UK (C1287\/A10118, C1287\/A16563, C1287\/A10710) and The European Union (HEALTH-F2-2009-223175 and H2020 633784 and 634935). All studies and funders are listed in Michailidou et al. (Nature, 2017). F.J.M.B. has received fees and grant support from Merck Serono and Ferring BV. D.A.L. has received financial support from several national and international government and charitable funders as well as from Medtronic Ltd and Roche Diagnostics for research that is unrelated to this study. N.S. is scientific consultant for Ansh Laboratories. The other authors declare no competing interests.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/humrep\/deac028","type":"journal-article","created":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T07:12:11Z","timestamp":1643353931000},"page":"1069-1082","source":"Crossref","is-referenced-by-count":34,"title":["Genome-wide association study meta-analysis identifies three novel loci for circulating anti-M\u00fcllerian hormone levels in women"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2061-0530","authenticated-orcid":false,"given":"Ren\u00e9e M G","family":"Verdiesen","sequence":"first","affiliation":[{"name":"Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne T","family":"van der Schouw","sequence":"additional","affiliation":[{"name":"Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla H","family":"van Gils","sequence":"additional","affiliation":[{"name":"Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W M Monique","family":"Verschuren","sequence":"additional","affiliation":[{"name":"Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"},{"name":"Centre for Nutrition, Prevention and Health Services, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J M","family":"Broekmans","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria C","family":"Borges","sequence":"additional","affiliation":[{"name":"MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK"},{"name":"Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2763-4647","authenticated-orcid":false,"given":"Ana L","family":"Gon\u00e7alves Soares","sequence":"additional","affiliation":[{"name":"MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK"},{"name":"Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A","family":"Lawlor","sequence":"additional","affiliation":[{"name":"MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK"},{"name":"Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK"},{"name":"Bristol NIHR Biomedical Research Centre, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A Heather","family":"Eliassen","sequence":"additional","affiliation":[{"name":"Channing Division of Network Medicine, Department of Medicine, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA"},{"name":"Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-8103","authenticated-orcid":false,"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA, USA"},{"name":"Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6776-0018","authenticated-orcid":false,"given":"Dale P","family":"Sandler","sequence":"additional","affiliation":[{"name":"Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, NC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9899-356X","authenticated-orcid":false,"given":"Siob\u00e1n D","family":"Harlow","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3575-5468","authenticated-orcid":false,"given":"Jennifer A","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanette","family":"Santoro","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minouk J","family":"Schoemaker","sequence":"additional","affiliation":[{"name":"Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J","family":"Swerdlow","sequence":"additional","affiliation":[{"name":"Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK"},{"name":"Division of Breast Cancer Research, The Institute of Cancer Research, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Murray","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, University of Exeter, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4966-9170","authenticated-orcid":false,"given":"Katherine S","family":"Ruth","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, University of Exeter, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2360-913X","authenticated-orcid":false,"given":"N Charlotte","family":"Onland-Moret","sequence":"additional","affiliation":[{"name":"Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,3,11]]},"reference":[{"key":"2022050519303014300_deac028-B1","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1101\/gad.455708","article-title":"A natural antisense transcript regulates Zeb2\/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition","volume":"22","author":"Beltran","year":"2008","journal-title":"Genes Dev"},{"key":"2022050519303014300_deac028-B2","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1093\/ije\/dyp217","article-title":"Cohort profile: the EPIC-NL study","volume":"39","author":"Beulens","year":"2010","journal-title":"Int J Epidemiol"},{"key":"2022050519303014300_deac028-B3","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/ije\/dys064","article-title":"Cohort profile: the \u2018children of the 90s\u2019\u2013the index offspring of the Avon Longitudinal Study of Parents and Children","volume":"42","author":"Boyd","year":"2013","journal-title":"Int J Epidemiol"},{"key":"2022050519303014300_deac028-B4","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1101\/gr.137323.112","article-title":"Annotation of functional variation in personal genomes using RegulomeDB","volume":"22","author":"Boyle","year":"2012","journal-title":"Genome Res"},{"key":"2022050519303014300_deac028-B5","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1038\/ng.3406","article-title":"An atlas of genetic correlations across human diseases and traits","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B6","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/ng.3211","article-title":"LD Score regression distinguishes confounding from polygenicity in genome-wide association studies","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B7","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/gepi.21998","article-title":"Bias due to participant overlap in two-sample Mendelian randomization","volume":"40","author":"Burgess","year":"2016","journal-title":"Genet Epidemiol"},{"key":"2022050519303014300_deac028-B8","doi-asserted-by":"crossref","DOI":"10.1201\/b18084","volume-title":"Mendelian Randomization: Methods for Using Genetic Variants in Causal Estimation","author":"Burgess","year":"2015"},{"key":"2022050519303014300_deac028-B9","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.cytogfr.2011.11.006","article-title":"Few Smad proteins and many Smad-interacting proteins yield multiple functions and action modes in TGFbeta\/BMP signaling in vivo","volume":"22","author":"Conidi","year":"2011","journal-title":"Cytokine Growth Factor Rev"},{"key":"2022050519303014300_deac028-B10","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1136\/bmj.330.7499.1076","article-title":"What can Mendelian randomisation tell us about modifiable behavioural and environmental exposures?","volume":"330","author":"Davey Smith","year":"2005","journal-title":"BMJ"},{"key":"2022050519303014300_deac028-B11","doi-asserted-by":"crossref","first-page":"e1007813","DOI":"10.1371\/journal.pgen.1007813","article-title":"Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria","volume":"14","author":"Day","year":"2018","journal-title":"PLoS Genet"},{"key":"2022050519303014300_deac028-B12","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1038\/ng.3412","article-title":"Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair","volume":"47","author":"Day","year":"2015","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B13","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/s12916-016-0699-y","article-title":"Back to the basics of ovarian aging: a population-based study on longitudinal anti-Mullerian hormone decline","volume":"14","author":"de Kat","year":"2016","journal-title":"BMC Med"},{"key":"2022050519303014300_deac028-B14","doi-asserted-by":"crossref","first-page":"e1004219","DOI":"10.1371\/journal.pcbi.1004219","article-title":"MAGMA: generalized gene-set analysis of GWAS data","volume":"11","author":"de Leeuw","year":"2015","journal-title":"PLoS Comput Biol"},{"key":"2022050519303014300_deac028-B15","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1093\/jnci\/djj376","article-title":"Endogenous steroid hormone concentrations and risk of breast cancer among premenopausal women","volume":"98","author":"Eliassen","year":"2006","journal-title":"J Natl Cancer Inst"},{"key":"2022050519303014300_deac028-B16","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1210\/en.2014-1551","article-title":"Anti-Mullerian hormone regulation by the bone morphogenetic proteins in the sheep ovary: deciphering a direct regulatory pathway","volume":"156","author":"Estienne","year":"2015","journal-title":"Endocrinology"},{"key":"2022050519303014300_deac028-B17","doi-asserted-by":"crossref","first-page":"e1862","DOI":"10.1210\/clinem\/dgz283","article-title":"Antimullerian hormone and impending menopause in late reproductive age: the study of women\u2019s health across the nation","volume":"105","author":"Finkelstein","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"2022050519303014300_deac028-B18","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1093\/ije\/dys066","article-title":"Cohort profile: the Avon longitudinal study of parents and children: ALSPAC mothers cohort","volume":"42","author":"Fraser","year":"2013","journal-title":"Int J Epidemiol"},{"key":"2022050519303014300_deac028-B19","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1002\/ijc.31249","article-title":"Circulating anti-Mullerian hormone and breast cancer risk: a study in ten prospective cohorts","volume":"142","author":"Ge","year":"2018","journal-title":"Int J Cancer"},{"key":"2022050519303014300_deac028-B20","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1128\/MCB.00276-12","article-title":"The MYC-associated protein CDCA7 is phosphorylated by AKT to regulate MYC-dependent apoptosis and transformation","volume":"33","author":"Gill","year":"2013","journal-title":"Mol Cell Biol"},{"key":"2022050519303014300_deac028-B21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.dnarep.2019.02.003","article-title":"The MCM8\/9 complex: a recent recruit to the roster of helicases involved in genome maintenance","volume":"76","author":"Griffin","year":"2019","journal-title":"DNA Repair (Amst)"},{"key":"2022050519303014300_deac028-B22","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1093\/jnci\/87.17.1297","article-title":"Alcohol, height, and adiposity in relation to estrogen and prolactin levels in postmenopausal women","volume":"87","author":"Hankinson","year":"1995","journal-title":"J Natl Cancer Inst"},{"key":"2022050519303014300_deac028-B23","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/ng.385","article-title":"Genome-wide association studies identify loci associated with age at menarche and age at natural menopause","volume":"41","author":"He","year":"2009","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B24","doi-asserted-by":"crossref","first-page":"e34408","DOI":"10.7554\/eLife.34408","article-title":"The MR-Base platform supports systematic causal inference across the human phenome","volume":"7","author":"Hemani","year":"2018","journal-title":"Elife"},{"key":"2022050519303014300_deac028-B25","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/humrep\/deu076","article-title":"The role of AMH in anovulation associated with PCOS: a hypothesis","volume":"29","author":"Homburg","year":"2014","journal-title":"Hum Reprod"},{"key":"2022050519303014300_deac028-B26","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1093\/humrep\/deaa199","article-title":"Loss of anti-M\u00fcllerian hormone (AMH) immunoactivity due to a homozygous AMH gene variant rs10417628 in a woman with classical polycystic ovary syndrome (PCOS)","volume":"35","author":"Hoyos","year":"2020","journal-title":"Hum Reprod"},{"key":"2022050519303014300_deac028-B27","doi-asserted-by":"crossref","first-page":"302","DOI":"10.3181\/00379727-66-16071","article-title":"The age factor in the castration of male rabbit fetuses","volume":"66","author":"Jost","year":"1947","journal-title":"Proc Soc Exp Biol Med"},{"key":"2022050519303014300_deac028-B28","doi-asserted-by":"crossref","first-page":"e22024","DOI":"10.1371\/journal.pone.0022024","article-title":"A validated model of serum anti-Mullerian hormone from conception to menopause","volume":"6","author":"Kelsey","year":"2011","journal-title":"PLoS One"},{"key":"2022050519303014300_deac028-B29","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B30","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/nature14248","article-title":"Integrative analysis of 111 reference human epigenomes","volume":"518","author":"Kundaje","year":"2015","journal-title":"Nature"},{"key":"2022050519303014300_deac028-B31","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1210\/jc.2003-030932","article-title":"Anti-Mullerian hormone serum concentrations in normoovulatory and anovulatory women of reproductive age","volume":"89","author":"Laven","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"2022050519303014300_deac028-B32","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1002\/sim.3034","article-title":"Mendelian randomization: using genes as instruments for making causal inferences in epidemiology","volume":"27","author":"Lawlor","year":"2008","journal-title":"Stat Med"},{"key":"2022050519303014300_deac028-B33","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1016\/j.celrep.2019.07.095","article-title":"MCM8- and MCM9 deficiencies cause lifelong increased hematopoietic DNA damage driving p53-dependent myeloid tumors","volume":"28","author":"Lutzmann","year":"2019","journal-title":"Cell Rep"},{"key":"2022050519303014300_deac028-B34","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/ng2088","article-title":"A new multipoint method for genome-wide association studies by imputation of genotypes","volume":"39","author":"Marchini","year":"2007","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B35","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/nature24284","article-title":"Association analysis identifies 65 new breast cancer risk loci","volume":"551","author":"Michailidou","year":"2017","journal-title":"Nature"},{"key":"2022050519303014300_deac028-B36","doi-asserted-by":"crossref","first-page":"3361","DOI":"10.1210\/clinem\/dgaa513","article-title":"Anti-M\u00fcllerian hormone and ovarian reserve: update on assessing ovarian function","volume":"105","author":"Moolhuijsen","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"2022050519303014300_deac028-B37","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1158\/1940-6207.CAPR-14-0377","article-title":"Anti-Mullerian hormone concentrations in premenopausal women and breast cancer risk","volume":"8","author":"Nichols","year":"2015","journal-title":"Cancer Prev Res (Phila)"},{"key":"2022050519303014300_deac028-B38","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1128\/MCB.01503-12","article-title":"The MCM8-MCM9 complex promotes RAD51 recruitment at DNA damage sites to facilitate homologous recombination","volume":"33","author":"Park","year":"2013","journal-title":"Mol Cell Biol"},{"key":"2022050519303014300_deac028-B39","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1093\/hmg\/ddv465","article-title":"Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males","volume":"25","author":"Perry","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2022050519303014300_deac028-B40","doi-asserted-by":"crossref","first-page":"5890","DOI":"10.1038\/ncomms6890","article-title":"Biological interpretation of genome-wide association studies using predicted gene functions","volume":"6","author":"Pers","year":"2015","journal-title":"Nat Commun"},{"key":"2022050519303014300_deac028-B41","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1093\/ije\/dyx103","article-title":"Cohort profile update: the Doetinchem Cohort Study 1987\u20132017: lifestyle, health and chronic diseases in a life course and ageing perspective","volume":"46","author":"Picavet","year":"2017","journal-title":"Int J Epidemiol"},{"key":"2022050519303014300_deac028-B42","doi-asserted-by":"crossref","first-page":"2602","DOI":"10.1210\/jc.2015-4066","article-title":"The bone morphogenetic protein 15 up-regulates the anti-Mullerian hormone receptor expression in granulosa cells","volume":"101","author":"Pierre","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"2022050519303014300_deac028-B43","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/aje\/kwt084","article-title":"Efficient design for Mendelian randomization studies: subsample and 2-sample instrumental variable estimators","volume":"178","author":"Pierce","year":"2013","journal-title":"Am J Epidemiol"},{"key":"2022050519303014300_deac028-B44","doi-asserted-by":"crossref","first-page":"2443","DOI":"10.1093\/emboj\/cdg225","article-title":"Opposing functions of ZEB proteins in the regulation of the TGFbeta\/BMP signaling pathway","volume":"22","author":"Postigo","year":"2003","journal-title":"EMBO J"},{"key":"2022050519303014300_deac028-B45","author":"R Core Team","year":"2017"},{"key":"2022050519303014300_deac028-B46","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1093\/hmg\/ddz015","article-title":"Genome-wide association study of anti-Mullerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan","volume":"28","author":"Ruth","year":"2019","journal-title":"Hum Mol Genet"},{"key":"2022050519303014300_deac028-B47","doi-asserted-by":"crossref","first-page":"1709","DOI":"10.1007\/s00439-012-1184-0","article-title":"Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities","volume":"131","author":"Schuh-Huerta","year":"2012","journal-title":"Hum Genet"},{"key":"2022050519303014300_deac028-B48","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1093\/humrep\/der391","article-title":"Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women","volume":"27","author":"Schuh-Huerta","year":"2012","journal-title":"Hum Reprod"},{"key":"2022050519303014300_deac028-B49","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/B978-012453790-3\/50012-3","volume-title":"Menopause: Biology and Pathobiology","author":"Sowers","year":"2000"},{"key":"2022050519303014300_deac028-B50","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/ng.387","article-title":"Loci at chromosomes 13, 19 and 20 influence age at natural menopause","volume":"41","author":"Stolk","year":"2009","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B51","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1038\/bjc.2011.337","article-title":"The Breakthrough Generations Study: design of a long-term UK cohort study to investigate breast cancer aetiology","volume":"105","author":"Swerdlow","year":"2011","journal-title":"Br J Cancer"},{"key":"2022050519303014300_deac028-B52","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1093\/ije\/dym292","article-title":"Cohort profile: the Doetinchem Cohort Study","volume":"37","author":"Verschuren","year":"2008","journal-title":"Int J Epidemiol"},{"key":"2022050519303014300_deac028-B53","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/s41467-017-01261-5","article-title":"Functional mapping and annotation of genetic associations with FUMA","volume":"8","author":"Watanabe","year":"2017","journal-title":"Nat Commun"},{"key":"2022050519303014300_deac028-B54","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1093\/molehr\/gah015","article-title":"Anti-M\u00fcllerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment","volume":"10","author":"Weenen","year":"2004","journal-title":"Mol Hum Reprod"},{"key":"2022050519303014300_deac028-B55","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","article-title":"METAL: fast and efficient meta-analysis of genomewide association scans","volume":"26","author":"Willer","year":"2010","journal-title":"Bioinformatics"},{"key":"2022050519303014300_deac028-B56","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1038\/nprot.2014.071","article-title":"Quality control and conduct of genome-wide association meta-analyses","volume":"9","author":"Winkler","year":"2014","journal-title":"Nat Protoc"},{"key":"2022050519303014300_deac028-B57","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng.2213","article-title":"Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits","volume":"44","author":"Yang","year":"2012","journal-title":"Nat Genet"},{"key":"2022050519303014300_deac028-B58","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2010.11.011","article-title":"GCTA: a tool for genome-wide complex trait analysis","volume":"88","author":"Yang","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2022050519303014300_deac028-B59","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1093\/bioinformatics\/btw079","article-title":"RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data","volume":"32","author":"Zhan","year":"2016","journal-title":"Bioinformatics"},{"key":"2022050519303014300_deac028-B60","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1093\/bioinformatics\/btw613","article-title":"LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis","volume":"33","author":"Zheng","year":"2017","journal-title":"Bioinformatics"},{"key":"2022050519303014300_deac028-B61","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1038\/ng.2310","article-title":"Genome-wide efficient mixed-model analysis for association studies","volume":"44","author":"Zhou","year":"2012","journal-title":"Nat Genet"}],"container-title":["Human Reproduction"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/humrep\/article-pdf\/37\/5\/1069\/43541477\/deac028.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/humrep\/article-pdf\/37\/5\/1069\/43541477\/deac028.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T16:25:08Z","timestamp":1651767908000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/humrep\/article\/37\/5\/1069\/6546800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,11]]},"references-count":61,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,3,11]]},"published-print":{"date-parts":[[2022,5,3]]}},"URL":"https:\/\/doi.org\/10.1093\/humrep\/deac028","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.10.29.20221390","asserted-by":"object"}]},"ISSN":["0268-1161","1460-2350"],"issn-type":[{"value":"0268-1161","type":"print"},{"value":"1460-2350","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,5,1]]},"published":{"date-parts":[[2022,3,11]]}}}