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DOI 10.1038/s41588-025-02156-8

Медицинская библиотека · Nature genetics · 2025

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

Venkatesh Samvida S, Wittemans Laura B L, Palmer Duncan S, Baya Nikolas A, Ferreira Teresa, Hill Barney, Lassen Frederik Heymann, Parker Melody J, Reibe Saskia, Elhakeem Ahmed, Banasik Karina, Bruun Mie T, Erikstrup Christian, Aagard Jensen Bitten, Juul Anders, Mikkelsen Christina, Nielsen Henriette S, Ostrowski Sisse R, Pedersen Ole B, Rohde Palle Duun, Sørensen Erik, Ullum Henrik, Westergaard David, Haraldsson Asgeir, Holm Hilma, Jonsdottir Ingileif, Olafsson Isleifur, Steingrimsdottir Thora, Steinthorsdottir Valgerdur, Thorleifsson Gudmar, Figueredo Jessica, Karjalainen Minna K, Pasanen Anu, Jacobs Benjamin M, Kalantzis Georgios, Hubers Nikki, Genes & Health Research Team, Estonian Biobank Research Team, Estonian Health Informatics Research Team, DBDS Genomic Consortium, FinnGen, Lippincott Margaret, Fraser Abigail, Lawlor Deborah A, Timpson Nicholas J, Nyegaard Mette, Stefansson Kari, Magi Reedik, Laivuori Hannele, van Heel David A, Boomsma Dorret I, Balasubramanian Ravikumar, Seminara Stephanie B, Chan Yee-Ming, Laisk Triin, Lindgren Cecilia M

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Аннотация

Genome-wide association studies (GWASs) may help inform the etiology of infertility. Here, we perform GWAS meta-analyses across seven cohorts in up to 42,629 cases and 740,619 controls and identify 25 genetic risk loci for male and female infertility. We additionally identify up to 269 genetic loci associated with follicle-stimulating hormone, luteinizing hormone, estradiol and testosterone through sex-specific GWAS meta-analyses (n = 6,095-246,862). Exome sequencing analyses reveal that women carrying testosterone-lowering rare variants in some genes are at risk of infertility. However, we find no local or genome-wide genetic correlation between female infertility and reproductive hormones. While infertility is genetically correlated with endometriosis and polycystic ovary syndrome, we find limited genetic overlap between infertility and obesity. Finally, we show that the evolutionary persistence of infertility-risk alleles may be explained by directional selection. Taken together, we provide a comprehensive view of the genetic determinants of infertility across multiple diagnostic criteria.

Для цитирования: Venkatesh Samvida S, Wittemans Laura B L, Palmer Duncan S, Baya Nikolas A, Ferreira Teresa, Hill Barney, Lassen Frederik Heymann, Parker Melody J, Reibe Saskia, Elhakeem Ahmed, Banasik Karina, Bruun Mie T, Erikstrup Christian, Aagard Jensen Bitten, Juul Anders, Mikkelsen Christina, Nielsen Henriette S, Ostrowski Sisse R, Pedersen Ole B, Rohde Palle Duun, Sørensen Erik, Ullum Henrik, Westergaard David, Haraldsson Asgeir, Holm Hilma, Jonsdottir Ingileif, Olafsson Isleifur, Steingrimsdottir Thora, Steinthorsdottir Valgerdur, Thorleifsson Gudmar, Figueredo Jessica, Karjalainen Minna K, Pasanen Anu, Jacobs Benjamin M, Kalantzis Georgios, Hubers Nikki, Genes & Health Research Team, Estonian Biobank Research Team, Estonian Health Informatics Research Team, DBDS Genomic Consortium, FinnGen, Lippincott Margaret, Fraser Abigail, Lawlor Deborah A, Timpson Nicholas J, Nyegaard Mette, Stefansson Kari, Magi Reedik, Laivuori Hannele, van Heel David A, Boomsma Dorret I, Balasubramanian Ravikumar, Seminara Stephanie B, Chan Yee-Ming, Laisk Triin, Lindgren Cecilia M. Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.. Nature genetics. 2025. DOI: 10.1038/s41588-025-02156-8.

Предметные рубрики MeSH

HumansGenome-Wide Association StudyFemaleMaleGene FrequencyGenetic Predisposition to DiseaseInfertility, FemalePolymorphism, Single NucleotidePolycystic Ovary SyndromeInfertility, MaleReproductionLuteinizing HormoneInfertilityFollicle Stimulating Hormone
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