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

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

in 17β-Estradiol / 45 / 45/43 / 631/208/205/2138 / 631/208/457 / 692/308/2056 / 692/699/2732/1577 / Agriculture / Alleles / Animal Genetics and Genomics / Biomedical and Life Sciences / Biomedicine / Cancer Research / Endometriosis / Female / Females / Fibroids / Follicle Stimulating Hormone - genetics / Follicle-stimulating hormone / Frequency spectrum / Gene frequency / Gene Frequency - genetics / Gene Function / Gene loci / Genetic Predisposition to Disease / Genome-wide association studies / Genome-Wide Association Study / Hormones / Human Genetics / Humans / Infertility / Infertility - genetics / Infertility, Female - genetics / Infertility, Male - genetics / Luteinizing hormone / Luteinizing Hormone - genetics / Male / Polycystic ovary syndrome / Polycystic Ovary Syndrome - genetics / Polymorphism, Single Nucleotide / Reproduction - genetics / Risk / Testosterone / Whole genome sequencing

2025

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2025

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2025

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Journal Article

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

Aagard Jensen, Bitten,

Thorleifsson, Gudmar,

Magi, Reedik,

van Heel, David A.,

Hubers, Nikki,

Parker, Melody J.,

Olafsson, Isleifur,

Westergaard, David,

Lindgren, Cecilia M.,

Ostrowski, Sisse R.,

Pedersen, Ole B.,

Kalantzis, Georgios,

Stefansson, Kari,

Reibe, Saskia,

Rohde, Palle Duun,

Jonsdottir, Ingileif,

Nielsen, Henriette S.,

Lassen, Frederik Heymann,

Boomsma, Dorret I.,

Bruun, Mie T.,

Baya, Nikolas A.,

Lippincott, Margaret,

Timpson, Nicholas J.,

Laivuori, Hannele,

Erikstrup, Christian,

Elhakeem, Ahmed,

Steingrimsdottir, Thora,

Karjalainen, Minna K.,

Laisk, Triin,

Fraser, Abigail,

Steinthorsdottir, Valgerdur,

Ferreira, Teresa,

Balasubramanian, Ravikumar,

Ullum, Henrik,

Holm, Hilma,

Venkatesh, Samvida S.,

Hill, Barney,

Pasanen, Anu,

Seminara, Stephanie B.,

Nyegaard, Mette,

Lawlor, Deborah A.,

Banasik, Karina,

Chan, Yee-Ming,

Wittemans, Laura B. L.,

Jacobs, Benjamin M.,

Palmer, Duncan S.,

Juul, Anders,

Figueredo, Jessica,

Haraldsson, Asgeir,

Mikkelsen, Christina,

Sørensen, Erik

2025

Overview

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. Genome-wide analyses identify variants associated with infertility and reproductive hormone levels but find limited polygenic overlap between reproductive hormone levels and infertility at the population level.

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Publisher

Nature Publishing Group US,Nature Publishing Group

Subject

17β-Estradiol

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/ 45/43