Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
40093197
TITLE
Polygenic Scores for Dizygotic Twinning: Insights into the Genetic Architecture of Female Fertility.
ABSTRACT
Natural dizygotic twinning (DZT) results from hyper-ovulation and is considered an indicator of female fertility. DZT has low polygenicity, with only 0.20% of SNPs estimated to have a nonzero effect. A polygenic score (PGS) for DZT explains 1.6% of variance in DZT liability and we observe an odds ratio of 2.29 between the 1 and the 10 PGS decile. The PGS is higher in mothers of naturally conceived twins compared to mothers who received fertility (MAR) treatments in both the Netherlands and Norway. The largest differences were observed for mothers who received hormonal ovulation induction, indicating maternal fertility issues. A higher PGS was also linked to shorter time to pregnancy. DZT showed significant negative genetic correlations with anovulatory infertility (r = -0.698) and PCOS (r = -0.278), and a positive genetic correlation with endometriosis (r = 0.279). These findings suggest DZT PGS is an important, yet under-recognized fertility marker.
DATE PUBLISHED
2025 Mar 05
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2025/03/17 15:20
medline 2025/03/17 15:21
entrez 2025/03/17 06:30
pmc-release 2025/03/14
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Hubers N Hubers Nikki N Department of Complex Trait Genetics, Centre for Neurogenomics and Cognitive Research, Amsterdam, Vrije Universiteit Amsterdam.
Page CM Page Christian M CM Department of Physical Health and Aging, Norwegian Institute of Public Health, Oslo, Norway.
Pool R Pool René R Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.
Mbarek H Mbarek Hamdi H Qatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
Lambalk N Lambalk Nils N Amsterdam Reproduction & Development (AR&D) Research Institute, Amsterdam, the Netherlands.
Mijatovic V Mijatovic Velja V Amsterdam Reproduction & Development (AR&D) Research Institute, Amsterdam, the Netherlands.
Ligthart L Ligthart Lannie L Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
van Dongen J van Dongen Jenny J Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.
Corfield EC Corfield Elizabeth C EC Nic Waals Institute, Lovisenberg Diaconal Hospital & PsychGen Centre for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health.
Beck JJ Beck Jeffrey J JJ Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, USA.
Ehli EA Ehli Erik A EA Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, USA.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Willemsen G Willemsen Gonneke G Faculty of Health, Sports and Social Work, Inholland University of Applied Sciences, Haarlem, the Netherlands.
Håberg S Håberg Siri S Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Harris JR Harris Jennifer R JR Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.
Hottenga JJ Hottenga Jouke-Jan JJ Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Boomsma DI Boomsma Dorret I DI Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: medRxiv : the preprint server for health sciences
ISOABBREVIATION: medRxiv
YEAR: 2025
MONTH: Mar
DAY: 05
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN:
ISSNTYPE:
MEDLINE JOURNAL
MEDLINETA: medRxiv
COUNTRY: United States
ISSNLINKING:
NLMUNIQUEID: 101767986
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Preprint
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
EP-C-15-001 EPA United States
RC2 MH089995 NIMH NIH HHS United States
GENERAL NOTE
KEYWORDS
KEYWORD
Dizygotic Twinning
Female Fertility
Medically Assisted reproduction (MAR)
Polygenic Scores (PGS)
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's