Article
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
Nature genetics - 1 May 2025
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, 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
Abstract excerpt
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...
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