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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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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 7, 2024 | 
medrxiv.org | Artem Shmatko |Alexander Jung |Kumar Gaurav |Søren Brunak
A preliminary patent has been filed for modelling time-dependent health data with generative transformers. We acknowledge the following sources of funding: Novo Nordisk Foundation grant NNF17OC0027594 (K.G., A.W.J., E.B., M.G.), the Robert Bosch Foundation (M.G.) and from the EMBL European Bioinformatics Institute (EMBL-EBI) (E.B., T.F., A.W.J.). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
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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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Mar 16, 2024 | 
nature.com | Bertram Kjerulff |Joseph Dowsett |Rikke Louise Jacobsen |Josephine Gladov |Agnete Troen Lundgaard |Karina Banasik | +23 more
AbstractThe emerging use of biomarkers in research and tailored care introduces a need for information about the association between biomarkers and basic demographics and lifestyle factors revealing expectable concentrations in healthy individuals while considering general demographic differences. A selection of 47 biomarkers, including markers of inflammation and vascular stress, were measured in plasma samples from 9876 Danish Blood Donor Study participants.
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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.
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Oct 26, 2023 | 
nature.com | Gyda Bjornsdottir |Mona A. Chalmer |Astros Th. Skuladottir |Gudmundur Einarsson |Egil Ferkingstad |Solveig Gretarsdottir | +27 more
AbstractMigraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants.
