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2 months ago | 
nature.com | Samvida Venkatesh |Duncan Palmer |Nikolas Baya |Melody Parker |Mie T Bruun |Christian Erikstrup | +29 more
AbstractGenome-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).
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Dec 5, 2024 | 
nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more
AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
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Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more
AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
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Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more
AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
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Aug 27, 2024 | 
nature.com | Asmundur Oddsson |Valgerdur Steinthorsdottir |Gudjon R. Oskarsson |Unnur Styrkarsdottir |Gísli H. Halldórsson |Gardar Sveinbjornsson | +22 more
AbstractAge at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered1. Here through GWAS meta-analysis under the recessive model of 174,329 postmenopausal women from Iceland, Denmark, the United Kingdom (UK; UK Biobank) and Norway, we study low-frequency variants with a large effect on AOM.
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Jul 22, 2024 | 
nature.com | David Westergaard |Valgerdur Steinthorsdottir |Palle Duun Rohde |Xiaoping Wu |Frank Geller |Pol Sole-Navais | +22 more
AbstractBleeding in early pregnancy and postpartum hemorrhage (PPH) bear substantial risks, with the former closely associated with pregnancy loss and the latter being the foremost cause of maternal death, underscoring the severe impact on maternal–fetal health. We identified five genetic loci linked to PPH in a meta-analysis.
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Jun 5, 2024 | 
nature.com | Barbara Schormair |Steven Bell |Maria Didriksen |Ambra Stefani |Georgios M. Hadjigeorgiou |Owen A Ross | +16 more
AbstractRestless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with RLS (cases) and 1,546,466 controls of European ancestry. The pooled analysis increased the number of risk loci eightfold to 164, including three on chromosome X.
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May 26, 2024 | 
nature.com | Bendik S Winsvold |Henrik Hjalgrim |Sisse R. Ostrowski |Christian Erikstrup |Mie Topholm Bruun |Ole Birger Pedersen | +7 more
AbstractHeadache disorders are the most common disorders of the nervous system. The lifetime prevalence of headache disorders show that some individuals never experience headache. The etiology of complete freedom from headache is not known. To assess genetic variants associated with complete freedom from headache, we performed a genome-wide association study of individuals who have never experienced a headache.
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Jan 29, 2024 | 
nature.com | Valgerdur Steinthorsdottir |Bjarni V Halldorsson |Hakon Jonsson |Gunnar Palsson |Asmundur Oddsson |David Westergaard | +15 more
AbstractTwo-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense variant in synaptonemal complex central element protein 2 (SYCE2), in a key residue for the assembly of the synaptonemal complex backbone, associates with recombination traits.
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Nov 2, 2023 | 
nature.com | Maria Nethander |Sofia Movérare-Skrtic |Anders Kämpe |Ene Reimann |Louise Grahnemo |Martine Cohen-Solal | +10 more
AbstractOsteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability. To establish an atlas of the genetic determinants of forearm fractures, we performed genome-wide association analyses including 100,026 forearm fracture cases. We identified 43 loci, including 26 new fracture loci.
