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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 | David Westergaard |Thomas Hansen |Roc Reguant |Isabella Friis Jørgensen |Tom Fitzgerald |Tom Fitzgerald | +3 more
AbstractQuantifying the contribution of genetics and environmental effects on disease initiation and progression, as well as the shared genetics of different diseases, is vital for the understanding of the disease etiology of multimorbidities. In this study, we leverage nationwide Danish registries to provide a granular atlas of the genetic origin of disease phenotypes for a cohort of all Danes 1978–2018 with partially known pedigree (n = 6.3 million).
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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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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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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.
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Oct 16, 2023 | 
nature.com | Tanmoy Roychowdhury |Derek Klarin |Michael Levin |Joshua M. Spin |Colwyn A. Headley |Noah Tsao | +44 more
AbstractAbdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association meta-analysis from 14 discovery cohorts and uncovered 141 independent associations, including 97 previously unreported loci. A polygenic risk score derived from meta-analysis explained AAA risk beyond clinical risk factors.
