{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T21:00:07Z","timestamp":1792616407313,"version":"4.5.0"},"reference-count":79,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T00:00:00Z","timestamp":1741651200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T00:00:00Z","timestamp":1741651200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["TK214"],"award-info":[{"award-number":["TK214"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PSG776"],"award-info":[{"award-number":["PSG776"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PSG776"],"award-info":[{"award-number":["PSG776"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1911"],"award-info":[{"award-number":["PRG1911"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1911"],"award-info":[{"award-number":["PRG1911"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1911"],"award-info":[{"award-number":["PRG1911"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1076"],"award-info":[{"award-number":["PRG1076"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PSG776"],"award-info":[{"award-number":["PSG776"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["TK214"],"award-info":[{"award-number":["TK214"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PSG776"],"award-info":[{"award-number":["PSG776"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1911"],"award-info":[{"award-number":["PRG1911"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"EC | European Regional Development Fund","doi-asserted-by":"publisher","award":["2014-2020.4.01.15-0012"],"award-info":[{"award-number":["2014-2020.4.01.15-0012"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"EC | Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["813707"],"award-info":[{"award-number":["813707"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2025,5]]},"DOI":"10.1038\/s41591-025-03543-8","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T10:08:37Z","timestamp":1741687717000},"page":"1626-1634","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses"],"prefix":"10.1038","volume":"31","author":[{"given":"Nat\u00e0lia","family":"Pujol Gualdo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2885-6241","authenticated-orcid":false,"given":"Jelisaveta","family":"D\u017eigurski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0888-1169","authenticated-orcid":false,"given":"Valentina","family":"Rukins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6014-0537","authenticated-orcid":false,"given":"Fanny-Dhelia","family":"Pajuste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3153-1552","authenticated-orcid":false,"given":"Brooke N.","family":"Wolford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariann","family":"V\u00f5sa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mia","family":"Golob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisette","family":"Haug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maris","family":"Alver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi","family":"L\u00e4ll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maire","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3058-1059","authenticated-orcid":false,"given":"Ben M.","family":"Brumpton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Estonian Biobank Research Team","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Metspalu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Milani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00f5nu","family":"Esko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Nelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgi","family":"Hudjashov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9320-7008","authenticated-orcid":false,"given":"Priit","family":"Palta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reedik","family":"M\u00e4gi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1501-9030","authenticated-orcid":false,"given":"Triin","family":"Laisk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,11]]},"reference":[{"key":"3543_CR1","doi-asserted-by":"crossref","first-page":"e75061","DOI":"10.7554\/eLife.75061","volume":"11","author":"ND Mercuri","year":"2022","unstructured":"Mercuri, N. D. & Cox, B. J. The need for more research into reproductive health and disease. eLife 11, e75061 (2022).","journal-title":"eLife"},{"key":"3543_CR2","doi-asserted-by":"crossref","unstructured":"A life-course approach to women\u2019s health. Nat. Med. 30, 1 (2024).","DOI":"10.1038\/s41591-023-02777-8"},{"key":"3543_CR3","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ajhg.2022.12.011","volume":"110","author":"A Abdellaoui","year":"2023","unstructured":"Abdellaoui, A., Yengo, L., Verweij, K. J. H. & Visscher, P. M. 15 years of GWAS discovery: realizing the promise. Am. J. Hum. Genet. 110, 179\u2013194 (2023).","journal-title":"Am. J. Hum. Genet."},{"key":"3543_CR4","doi-asserted-by":"crossref","first-page":"e1007813","DOI":"10.1371\/journal.pgen.1007813","volume":"14","author":"F Day","year":"2018","unstructured":"Day, F. et al. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. PLoS Genet. 14, e1007813 (2018).","journal-title":"PLoS Genet."},{"key":"3543_CR5","doi-asserted-by":"publisher","unstructured":"Moolhuijsen, L. M. E. et al. Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome. Preprint at medRxiv https:\/\/doi.org\/10.1101\/2024.04.18.24306020 (2024).","DOI":"10.1101\/2024.04.18.24306020"},{"key":"3543_CR6","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/s41588-023-01323-z","volume":"55","author":"N Rahmioglu","year":"2023","unstructured":"Rahmioglu, N. et al. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nat. Genet. 55, 423\u2013436 (2023).","journal-title":"Nat. Genet."},{"key":"3543_CR7","doi-asserted-by":"crossref","first-page":"3166","DOI":"10.1038\/s41467-018-05427-7","volume":"9","author":"TA O\u2019Mara","year":"2018","unstructured":"O\u2019Mara, T. A. et al. Identification of nine new susceptibility loci for endometrial cancer. Nat. Commun. 9, 3166 (2018).","journal-title":"Nat. Commun."},{"key":"3543_CR8","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/ng.3826","volume":"49","author":"CM Phelan","year":"2017","unstructured":"Phelan, C. M. et al. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat. Genet. 49, 680\u2013691 (2017).","journal-title":"Nat. Genet."},{"key":"3543_CR9","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/hmg\/ddad043","volume":"32","author":"M Koel","year":"2023","unstructured":"Koel, M. et al. GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer. Hum. Mol. Genet. 32, 2103\u20132116 (2023).","journal-title":"Hum. Mol. Genet."},{"key":"3543_CR10","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1038\/s41591-023-02374-9","volume":"29","author":"MC Honigberg","year":"2023","unstructured":"Honigberg, M. C. et al. Polygenic prediction of preeclampsia and gestational hypertension. Nat. Med. 29, 1540\u20131549 (2023).","journal-title":"Nat. Med."},{"key":"3543_CR11","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1001\/jamacardio.2023.1312","volume":"8","author":"JS Tyrmi","year":"2023","unstructured":"Tyrmi, J. S. et al. Genetic risk factors associated with preeclampsia and hypertensive disorders of pregnancy. JAMA Cardiol. 8, 674\u2013683 (2023).","journal-title":"JAMA Cardiol."},{"key":"3543_CR12","doi-asserted-by":"crossref","first-page":"3377","DOI":"10.1093\/hmg\/ddac050","volume":"31","author":"N Pervjakova","year":"2022","unstructured":"Pervjakova, N. et al. Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Hum. Mol. Genet. 31, 3377\u20133391 (2022).","journal-title":"Hum. Mol. Genet."},{"key":"3543_CR13","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/s41588-023-01607-4","volume":"56","author":"A Elliott","year":"2024","unstructured":"Elliott, A. et al. Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes. Nat. Genet. 56, 377\u2013382 (2024).","journal-title":"Nat. Genet."},{"key":"3543_CR14","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/s41467-018-03258-0","volume":"9","author":"MS Fejzo","year":"2018","unstructured":"Fejzo, M. S. et al. Placenta and appetite genes GDF15 and IGFBP7 are associated with hyperemesis gravidarum. Nat. Commun. 9, 1178 (2018).","journal-title":"Nat. Commun."},{"key":"3543_CR15","doi-asserted-by":"crossref","first-page":"2516","DOI":"10.1093\/humrep\/dead217","volume":"38","author":"N Pujol Gualdo","year":"2023","unstructured":"Pujol Gualdo, N., Estonian Biobank Research Team, M\u00e4gi, R. & Laisk, T. Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy. Hum. Reprod. 38, 2516\u20132525 (2023).","journal-title":"Hum. Reprod."},{"key":"3543_CR16","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/s41588-023-01343-9","volume":"55","author":"P Sol\u00e9-Navais","year":"2023","unstructured":"Sol\u00e9-Navais, P. et al. Genetic effects on the timing of parturition and links to fetal birth weight. Nat. Genet. 55, 559\u2013567 (2023).","journal-title":"Nat. Genet."},{"key":"3543_CR17","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/s41588-024-01798-4","volume":"56","author":"KA Kentistou","year":"2024","unstructured":"Kentistou, K. A. et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nat. Genet. 56, 1397\u20131411 (2024).","journal-title":"Nat. Genet."},{"key":"3543_CR18","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/s41586-021-03779-7","volume":"596","author":"KS Ruth","year":"2021","unstructured":"Ruth, K. S. et al. Genetic insights into biological mechanisms governing human ovarian ageing. Nature 596, 393\u2013397 (2021).","journal-title":"Nature"},{"key":"3543_CR19","doi-asserted-by":"crossref","first-page":"e026561","DOI":"10.1161\/JAHA.121.026561","volume":"12","author":"B Xiao","year":"2023","unstructured":"Xiao, B. et al. Inference of causal relationships between genetic risk factors for cardiometabolic phenotypes and female-specific health conditions. J. Am. Heart Assoc. 12, e026561 (2023).","journal-title":"J. Am. Heart Assoc."},{"key":"3543_CR20","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1093\/ije\/dyt268","volume":"44","author":"L Leitsalu","year":"2015","unstructured":"Leitsalu, L. et al. Cohort profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int. J. Epidemiol. 44, 1137\u20131147 (2015).","journal-title":"Int. J. Epidemiol."},{"key":"3543_CR21","doi-asserted-by":"publisher","unstructured":"Milani, L. et al. From biobanking to personalized medicine: the journey of the Estonian Biobank. Preprint at medRxiv https:\/\/doi.org\/10.1101\/2024.09.22.24313964 (2024).","DOI":"10.1101\/2024.09.22.24313964"},{"key":"3543_CR22","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/s41586-022-05473-8","volume":"613","author":"MI Kurki","year":"2023","unstructured":"Kurki, M. I. et al. FinnGen provides genetic insights from a well-phenotyped isolated population. Nature 613, 508\u2013518 (2023).","journal-title":"Nature"},{"key":"3543_CR23","doi-asserted-by":"crossref","first-page":"4857","DOI":"10.1038\/s41467-019-12536-4","volume":"10","author":"CS Gallagher","year":"2019","unstructured":"Gallagher, C. S. et al. Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nat. Commun. 10, 4857 (2019).","journal-title":"Nat. Commun."},{"key":"3543_CR24","doi-asserted-by":"crossref","first-page":"4840","DOI":"10.1038\/s41467-022-29931-z","volume":"13","author":"PH Dixon","year":"2022","unstructured":"Dixon, P. H. et al. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements. Nat. Commun. 13, 4840 (2022).","journal-title":"Nat. Commun."},{"key":"3543_CR25","doi-asserted-by":"crossref","unstructured":"Pathare, A. D. S. et al. A large-scale genome-wide association study on female genital tract polyps highlights role of DNA repair, cell proliferation, and cell growth. Hum. Reprod. deaf025 (2025).","DOI":"10.1093\/humrep\/deaf025"},{"key":"3543_CR26","doi-asserted-by":"crossref","first-page":"D1311","DOI":"10.1093\/nar\/gkaa840","volume":"49","author":"M Ghoussaini","year":"2021","unstructured":"Ghoussaini, M. et al. Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. Nucleic Acids Res. 49, D1311\u2013D1320 (2021).","journal-title":"Nucleic Acids Res."},{"key":"3543_CR27","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1038\/s41588-021-00945-5","volume":"53","author":"E Mountjoy","year":"2021","unstructured":"Mountjoy, E. et al. An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. Nat. Genet. 53, 1527\u20131533 (2021).","journal-title":"Nat. Genet."},{"key":"3543_CR28","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1038\/s41467-024-45382-0","volume":"15","author":"K Buyukcelebi","year":"2024","unstructured":"Buyukcelebi, K. et al. Integrating leiomyoma genetics, epigenomics, and single-cell transcriptomics reveals causal genetic variants, genes, and cell types. Nat. Commun. 15, 1169 (2024).","journal-title":"Nat. Commun."},{"key":"3543_CR29","first-page":"4323","volume":"27","author":"T Laisk","year":"2018","unstructured":"Laisk, T. et al. Large-scale meta-analysis highlights the hypothalamic\u2013pituitary\u2013gonadal axis in the genetic regulation of menstrual cycle length. Hum. Mol. Genet. 27, 4323\u20134332 (2018).","journal-title":"Hum. Mol. Genet."},{"key":"3543_CR30","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1093\/humrep\/deab250","volume":"37","author":"JS Tyrmi","year":"2022","unstructured":"Tyrmi, J. S. et al. Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome. Hum. Reprod. 37, 352\u2013365 (2022).","journal-title":"Hum. Reprod."},{"key":"3543_CR31","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/s41467-023-35974-7","volume":"14","author":"E Sliz","year":"2023","unstructured":"Sliz, E. et al. Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata. Nat. Commun. 14, 542 (2023).","journal-title":"Nat. Commun."},{"key":"3543_CR32","doi-asserted-by":"crossref","first-page":"e37110","DOI":"10.7554\/eLife.37110","volume":"7","author":"N V\u00e4lim\u00e4ki","year":"2018","unstructured":"V\u00e4lim\u00e4ki, N. et al. Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability. eLife 7, e37110 (2018).","journal-title":"eLife"},{"key":"3543_CR33","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.fertnstert.2017.09.018","volume":"108","author":"MJ Bray","year":"2017","unstructured":"Bray, M. J. et al. Admixture mapping of uterine fibroid size and number in African American women. Fertil. Steril. 108, 1034\u20131042 (2017).","journal-title":"Fertil. Steril."},{"key":"3543_CR34","first-page":"100079","volume":"3","author":"LD Ward","year":"2021","unstructured":"Ward, L. D. et al. Rare coding variants in DNA damage repair genes associated with timing of natural menopause. HGG Adv. 3, 100079 (2021).","journal-title":"HGG Adv."},{"key":"3543_CR35","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1111\/jog.12461","volume":"40","author":"W Zhang","year":"2014","unstructured":"Zhang, W. et al. Overexpression of myosin is associated with the development of uterine myoma. J. Obstet. Gynaecol. Res. 40, 2051\u20132057 (2014).","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"3543_CR36","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/ng.3211","volume":"47","author":"BK Bulik-Sullivan","year":"2015","unstructured":"Bulik-Sullivan, B. K. et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291\u2013295 (2015).","journal-title":"Nat. Genet."},{"key":"3543_CR37","doi-asserted-by":"crossref","first-page":"3584","DOI":"10.1038\/s41467-022-31188-5","volume":"13","author":"N Pujol-Gualdo","year":"2022","unstructured":"Pujol-Gualdo, N. et al. Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. Nat. Commun. 13, 3584 (2022).","journal-title":"Nat. Commun."},{"key":"3543_CR38","doi-asserted-by":"crossref","first-page":"e1008612","DOI":"10.1371\/journal.pgen.1008612","volume":"16","author":"D Holland","year":"2020","unstructured":"Holland, D. et al. Beyond SNP heritability: polygenicity and discoverability of phenotypes estimated with a univariate Gaussian mixture model. PLoS Genet. 16, e1008612 (2020).","journal-title":"PLoS Genet."},{"key":"3543_CR39","doi-asserted-by":"publisher","unstructured":"Venkatesh, S. S. et al. Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum. Preprint at medRxiv https:\/\/doi.org\/10.1101\/2024.03.19.24304530 (2024).","DOI":"10.1101\/2024.03.19.24304530"},{"key":"3543_CR40","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1038\/ng.3406","volume":"47","author":"B Bulik-Sullivan","year":"2015","unstructured":"Bulik-Sullivan, B. et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236\u20131241 (2015).","journal-title":"Nat. Genet."},{"key":"3543_CR41","doi-asserted-by":"crossref","first-page":"5470","DOI":"10.3390\/ijerph19095470","volume":"19","author":"M-L Pan","year":"2022","unstructured":"Pan, M.-L., Chen, L.-R. & Chen, K.-H. Prepregnancy polycystic ovary syndrome as a risk factor of subsequent preterm labor: a national population-based cohort study. Int. J. Environ. Res. Public Health 19, 5470 (2022).","journal-title":"Int. J. Environ. Res. Public Health"},{"key":"3543_CR42","doi-asserted-by":"crossref","first-page":"d6309","DOI":"10.1136\/bmj.d6309","volume":"343","author":"N Roos","year":"2011","unstructured":"Roos, N. et al. Risk of adverse pregnancy outcomes in women with polycystic ovary syndrome: population based cohort study. BMJ 343, d6309 (2011).","journal-title":"BMJ"},{"key":"3543_CR43","doi-asserted-by":"crossref","first-page":"166869","DOI":"10.1016\/j.bbadis.2023.166869","volume":"1870","author":"L-Y Jin","year":"2024","unstructured":"Jin, L.-Y. et al. Overexpression of Pde4d in rat granulosa cells inhibits maturation and atresia of antral follicles to induce polycystic ovary. Biochim. Biophys. Acta Mol. Basis Dis. 1870, 166869 (2024).","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"3543_CR44","doi-asserted-by":"crossref","first-page":"E1476","DOI":"10.1210\/jc.2014-1430","volume":"99","author":"M Jensterle","year":"2014","unstructured":"Jensterle, M., Kocjan, T. & Janez, A. Phosphodiesterase 4 inhibition as a potential new therapeutic target in obese women with polycystic ovary syndrome. J. Clin. Endocrinol. Metab. 99, E1476\u2013E1481 (2014).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3543_CR45","doi-asserted-by":"crossref","first-page":"e1004494","DOI":"10.1371\/journal.pgen.1004494","volume":"10","author":"ET Lim","year":"2014","unstructured":"Lim, E. T. et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 10, e1004494 (2014).","journal-title":"PLoS Genet."},{"key":"3543_CR46","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/ejhg.2016.205","volume":"25","author":"H Chheda","year":"2017","unstructured":"Chheda, H. et al. Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. Eur. J. Hum. Genet. 25, 477\u2013484 (2017).","journal-title":"Eur. J. Hum. Genet."},{"key":"3543_CR47","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1016\/j.ajhg.2021.07.012","volume":"108","author":"T Kivisild","year":"2021","unstructured":"Kivisild, T. et al. Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population. Am. J. Hum. Genet. 108, 1792\u20131806 (2021).","journal-title":"Am. J. Hum. Genet."},{"key":"3543_CR48","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1038\/ejhg.2017.51","volume":"25","author":"M Mitt","year":"2017","unstructured":"Mitt, M. et al. Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. Eur. J. Hum. Genet. 25, 869\u2013876 (2017).","journal-title":"Eur. J. Hum. Genet."},{"key":"3543_CR49","doi-asserted-by":"crossref","first-page":"8464","DOI":"10.1038\/ncomms9464","volume":"6","author":"FR Day","year":"2015","unstructured":"Day, F. R. et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464 (2015).","journal-title":"Nat. Commun."},{"key":"3543_CR50","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1093\/emph\/eoy029","volume":"2018","author":"PJ Varas Enriquez","year":"2018","unstructured":"Varas Enriquez, P. J., McKerracher, L. J. & Elliot, M. G. Pre-eclampsia and maternal\u2013fetal conflict. Evol. Med. Public Health 2018, 217\u2013218 (2018).","journal-title":"Evol. Med. Public Health"},{"key":"3543_CR51","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1038\/s41467-024-45338-4","volume":"15","author":"M Pavli\u010dev","year":"2024","unstructured":"Pavli\u010dev, M. et al. A common allele increases endometrial Wnt4 expression, with antagonistic implications for pregnancy, reproductive cancers, and endometriosis. Nat. Commun. 15, 1152 (2024).","journal-title":"Nat. Commun."},{"key":"3543_CR52","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1038\/s41588-023-01466-z","volume":"55","author":"N Wilcox","year":"2023","unstructured":"Wilcox, N. et al. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Nat. Genet. 55, 1435\u20131439 (2023).","journal-title":"Nat. Genet."},{"key":"3543_CR53","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","volume":"384","author":"Breast Cancer Association Consortium","year":"2021","unstructured":"Breast Cancer Association Consortium et al. Breast cancer risk genes\u2014association analysis in more than 113,000 women. N. Engl. J. Med. 384, 428\u2013439 (2021).","journal-title":"N. Engl. J. Med."},{"key":"3543_CR54","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1038\/s41591-023-02429-x","volume":"29","author":"AP Patel","year":"2023","unstructured":"Patel, A. P. et al. A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease. Nat. Med. 29, 1793\u20131803 (2023).","journal-title":"Nat. Med."},{"key":"3543_CR55","doi-asserted-by":"crossref","first-page":"6383","DOI":"10.1038\/s41467-020-19966-5","volume":"11","author":"N Mars","year":"2020","unstructured":"Mars, N. et al. The role of polygenic risk and susceptibility genes in breast cancer over the course of life. Nat. Commun. 11, 6383 (2020).","journal-title":"Nat. Commun."},{"key":"3543_CR56","doi-asserted-by":"crossref","unstructured":"Obstetrics Group of the Gynecology and Obstetrics Branch of Chinese Medical Association, Perinatal Medicine Branch of Chinese Medical Association, Yu, X., Yang, H. & Qi, H. Clinical management guidelines for intrahepatic cholestasis of pregnancy. Matern. Fetal Med. 6, 13\u201322 (2024).","DOI":"10.1097\/FM9.0000000000000207"},{"key":"3543_CR57","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/s41591-024-02796-z","volume":"30","author":"NJ Lennon","year":"2024","unstructured":"Lennon, N. J. et al. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat. Med. 30, 480\u2013487 (2024).","journal-title":"Nat. Med."},{"key":"3543_CR58","doi-asserted-by":"crossref","first-page":"8318","DOI":"10.1038\/s41467-023-43878-9","volume":"14","author":"A Khan","year":"2023","unstructured":"Khan, A. et al. Polygenic risk alters the penetrance of monogenic kidney disease. Nat. Commun. 14, 8318 (2023).","journal-title":"Nat. Commun."},{"key":"3543_CR59","doi-asserted-by":"crossref","first-page":"3635","DOI":"10.1038\/s41467-020-17374-3","volume":"11","author":"AC Fahed","year":"2020","unstructured":"Fahed, A. C. et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat. Commun. 11, 3635 (2020).","journal-title":"Nat. Commun."},{"key":"3543_CR60","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.ajhg.2020.08.008","volume":"107","author":"K Krebs","year":"2020","unstructured":"Krebs, K. et al. Genome-wide study identifies association between HLA-B\u221755:01 and self-reported penicillin allergy. Am. J. Hum. Genet. 107, 612\u2013621 (2020).","journal-title":"Am. J. Hum. Genet."},{"key":"3543_CR61","doi-asserted-by":"crossref","first-page":"96","DOI":"10.3390\/jpm5020096","volume":"5","author":"L Leitsalu","year":"2015","unstructured":"Leitsalu, L., Alavere, H., Tammesoo, M.-L., Leego, E. & Metspalu, A. Linking a population biobank with national health registries\u2014the Estonian experience. J. Pers. Med. 5, 96\u2013106 (2015).","journal-title":"J. Pers. Med."},{"key":"3543_CR62","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/s41588-021-00870-7","volume":"53","author":"J Mbatchou","year":"2021","unstructured":"Mbatchou, J. et al. Computationally efficient whole-genome regression for quantitative and binary traits. Nat. Genet. 53, 1097\u20131103 (2021).","journal-title":"Nat. Genet."},{"key":"3543_CR63","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent, W. J. et al. The human genome browser at UCSC. Genome Res. 12, 996\u20131006 (2002).","journal-title":"Genome Res."},{"key":"3543_CR64","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1186\/1471-2105-11-288","volume":"11","author":"R M\u00e4gi","year":"2010","unstructured":"M\u00e4gi, R. & Morris, A. P. GWAMA: software for genome-wide association meta-analysis. BMC Bioinformatics 11, 288 (2010).","journal-title":"BMC Bioinformatics"},{"key":"3543_CR65","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/s41467-017-01261-5","volume":"8","author":"K Watanabe","year":"2017","unstructured":"Watanabe, K., Taskesen, E., van Bochoven, A. & Posthuma, D. Functional mapping and annotation of genetic associations with FUMA. Nat. Commun. 8, 1826 (2017).","journal-title":"Nat. Commun."},{"key":"3543_CR66","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.ajhg.2011.02.002","volume":"88","author":"SH Lee","year":"2011","unstructured":"Lee, S. H., Wray, N. R., Goddard, M. E. & Visscher, P. M. Estimating missing heritability for disease from genome-wide association studies. Am. J. Hum. Genet. 88, 294\u2013305 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"3543_CR67","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1038\/s41593-018-0206-1","volume":"21","author":"JA Pasman","year":"2018","unstructured":"Pasman, J. A. et al. GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia. Nat. Neurosci. 21, 1161\u20131170 (2018).","journal-title":"Nat. Neurosci."},{"key":"3543_CR68","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1038\/s41588-022-01245-2","volume":"54","author":"C Romero","year":"2022","unstructured":"Romero, C. et al. Exploring the genetic overlap between twelve psychiatric disorders. Nat. Genet. 54, 1795\u20131802 (2022).","journal-title":"Nat. Genet."},{"key":"3543_CR69","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1038\/s41588-019-0481-0","volume":"51","author":"K Watanabe","year":"2019","unstructured":"Watanabe, K. et al. A global overview of pleiotropy and genetic architecture in complex traits. Nat. Genet. 51, 1339\u20131348 (2019).","journal-title":"Nat. Genet."},{"key":"3543_CR70","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/s41588-018-0047-6","volume":"50","author":"M Kanai","year":"2018","unstructured":"Kanai, M. et al. Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. Nat. Genet. 50, 390\u2013400 (2018).","journal-title":"Nat. Genet."},{"key":"3543_CR71","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1038\/s41467-019-09718-5","volume":"10","author":"T Ge","year":"2019","unstructured":"Ge, T., Chen, C.-Y., Ni, Y., Feng, Y.-C. A. & Smoller, J. W. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat. Commun. 10, 1776 (2019).","journal-title":"Nat. Commun."},{"key":"3543_CR72","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","volume":"4","author":"CC Chang","year":"2015","unstructured":"Chang, C. C. et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 4, 7 (2015).","journal-title":"Gigascience"},{"key":"3543_CR73","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1093\/bioinformatics\/btu197","volume":"30","author":"RJ Carroll","year":"2014","unstructured":"Carroll, R. J., Bastarache, L. & Denny, J. C. R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment. Bioinformatics 30, 2375\u20132376 (2014).","journal-title":"Bioinformatics"},{"key":"3543_CR74","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1093\/ije\/dys095","volume":"42","author":"S Krokstad","year":"2013","unstructured":"Krokstad, S. et al. Cohort profile: the HUNT study, Norway. Int. J. Epidemiol. 42, 968\u2013977 (2013).","journal-title":"Int. J. Epidemiol."},{"key":"3543_CR75","doi-asserted-by":"crossref","first-page":"e80","DOI":"10.1093\/ije\/dyac095","volume":"52","author":"BO \u00c5svold","year":"2023","unstructured":"\u00c5svold, B. O. et al. Cohort profile update: the HUNT study, Norway. Int. J. Epidemiol. 52, e80\u2013e91 (2023).","journal-title":"Int. J. Epidemiol."},{"key":"3543_CR76","doi-asserted-by":"crossref","first-page":"100193","DOI":"10.1016\/j.xgen.2022.100193","volume":"2","author":"BM Brumpton","year":"2022","unstructured":"Brumpton, B. M. et al. The HUNT study: a population-based cohort for genetic research. Cell Genom. 2, 100193 (2022).","journal-title":"Cell Genom."},{"key":"3543_CR77","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1038\/ng.3643","volume":"48","author":"S McCarthy","year":"2016","unstructured":"McCarthy, S. et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279\u20131283 (2016).","journal-title":"Nat. Genet."},{"key":"3543_CR78","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-024-01937-x","author":"SA Lambert","year":"2024","unstructured":"Lambert, S. A. et al. Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization. Nat. Genet. https:\/\/doi.org\/10.1038\/s41588-024-01937-x (2024).","journal-title":"Nat. Genet."},{"key":"3543_CR79","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/s41588-021-00783-5","volume":"53","author":"SA Lambert","year":"2021","unstructured":"Lambert, S. A. et al. The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation. Nat. Genet. 53, 420\u2013425 (2021).","journal-title":"Nat. Genet."}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41591-025-03543-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-025-03543-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-025-03543-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T14:58:27Z","timestamp":1747753107000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41591-025-03543-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,11]]},"references-count":79,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["3543"],"URL":"https:\/\/doi.org\/10.1038\/s41591-025-03543-8","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,11]]},"assertion":[{"value":"5 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 March 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}