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Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

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Title: Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
Authors: Venkatesh SS; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK. samvida.venkatesh@gmail.com.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. samvida.venkatesh@gmail.com., Wittemans LBL; Novo Nordisk Research Centre Oxford, Oxford, UK.; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, Oxford, UK., Palmer DS; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK., Baya NA; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Ferreira T; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK., Hill B; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK., Lassen FH; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Parker MJ; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK., Reibe S; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK., Elhakeem A; MRC Integrative Epidemiology Unit at the University of Bristol, Bristol, UK.; Population Health Science, Bristol Medical School, University of Bristol, Bristol, UK., Banasik K; Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark.; Department of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Copenhagen, Denmark., Bruun MT; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark., Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Aagard Jensen B; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark., Juul A; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Growth and Reproduction, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Mikkelsen C; Department of Clinical Immunology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Science, Copenhagen University, Copenhagen, Denmark., Nielsen HS; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Obstetrics and Gynecology, The Fertility Clinic, Hvidovre University Hospital, Copenhagen, Denmark., Ostrowski SR; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Pedersen OB; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Zealand University Hospital-Køge, Køge, Denmark., Rohde PD; Genomic Medicine, Department of Health Science and Technology, Aalborg University, Aalborg, Denmark., Sørensen E; Department of Clinical Immunology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Ullum H; Statens Serum Institut, Copenhagen, Denmark., Westergaard D; Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark.; Department of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Copenhagen, Denmark., Haraldsson A; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Children's Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland., Holm H; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Jonsdottir I; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Olafsson I; Department of Clinical Biochemistry, Landspitali University Hospital, Reykjavik, Iceland., Steingrimsdottir T; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland., Steinthorsdottir V; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Thorleifsson G; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Figueredo J; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Karjalainen MK; Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Research Unit of Population Health, Faculty of Medicine, University of Oulu, Oulu, Finland.; Northern Finland Birth Cohorts, Arctic Biobank, Infrastructure for Population Studies, Faculty of Medicine, University of Oulu, Oulu, Finland., Pasanen A; Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland., Jacobs BM; Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University London, London, UK., Kalantzis G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Hubers N; Department of Biological Psychology, Netherlands Twin Register, Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Institute, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, The Netherlands., Lippincott M; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Fraser A; MRC Integrative Epidemiology Unit at the University of Bristol, Bristol, UK.; Population Health Science, Bristol Medical School, University of Bristol, Bristol, UK., Lawlor DA; MRC Integrative Epidemiology Unit at the University of Bristol, Bristol, UK.; Population Health Science, Bristol Medical School, University of Bristol, Bristol, UK., Timpson NJ; MRC Integrative Epidemiology Unit at the University of Bristol, Bristol, UK.; Population Health Science, Bristol Medical School, University of Bristol, Bristol, UK., Nyegaard M; Genomic Medicine, Department of Health Science and Technology, Aalborg University, Aalborg, Denmark.; Statens Serum Institut, Copenhagen, Denmark., Stefansson K; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Magi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Laivuori H; Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Obstetrics and Gynecology, Tampere University Hospital, The Wellbeing Services County of Pirkanmaa, Tampere, Finland.; Center for Child, Adolescent, and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., van Heel DA; Blizard Institute, Queen Mary University London, London, UK., Boomsma DI; Amsterdam Reproduction and Development Institute, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, The Netherlands., Balasubramanian R; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Seminara SB; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Chan YM; Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Laisk T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Lindgren CM; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK. cecilia.lindgren@bdi.ox.ac.uk.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. cecilia.lindgren@bdi.ox.ac.uk.; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, Oxford, UK. cecilia.lindgren@bdi.ox.ac.uk.; Broad Institute of Harvard and MIT, Cambridge, MA, USA. cecilia.lindgren@bdi.ox.ac.uk.
Corporate Authors: Genes & Health Research Team, Estonian Biobank Research Team, Estonian Health Informatics Research Team, DBDS Genomic Consortium, FinnGen
Source: Nature genetics [Nat Genet] 2025 May; Vol. 57 (5), pp. 1107-1118. Date of Electronic Publication: 2025 Apr 14.
Publication Type: Journal Article; Meta-Analysis
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
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Broad Institute of Harvard and MIT, Cambridge, MA, USA. cecilia.lindgren@bdi.ox.ac.uk.
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            NameFull: Karjalainen MK
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          Name:
            NameFull: Pasanen A
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          Name:
            NameFull: Jacobs BM
      – PersonEntity:
          Name:
            NameFull: Kalantzis G
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          Name:
            NameFull: Hubers N
      – PersonEntity:
          Name:
            NameFull: Lippincott M
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          Name:
            NameFull: Fraser A
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          Name:
            NameFull: Lawlor DA
      – PersonEntity:
          Name:
            NameFull: Timpson NJ
      – PersonEntity:
          Name:
            NameFull: Nyegaard M
      – PersonEntity:
          Name:
            NameFull: Stefansson K
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            NameFull: Magi R
      – PersonEntity:
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            NameFull: Laivuori H
      – PersonEntity:
          Name:
            NameFull: van Heel DA
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            NameFull: Balasubramanian R
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            NameFull: Seminara SB
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      – PersonEntity:
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    IsPartOfRelationships:
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          Dates:
            – D: 01
              M: 05
              Text: 2025 May
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1546-1718
          Numbering:
            – Type: volume
              Value: 57
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Nature genetics
              Type: main
ResultId 1