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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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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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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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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 5, 2023 | 
nature.com | Robin Beaumont |Christopher Flatley |Marc Vaudel |JING CHEN |Gunn-Helen Moen |Line Skotte | +52 more
AbstractA well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), maternal (n = 61,228) and paternal (n = 52,392) genomes, yielding 40 independent association signals. Twenty-six signals are classified as fetal, four maternal and three fetal and maternal. A maternal parent-of-origin effect is seen near KCNQ1.
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Jul 3, 2023 | 
nature.com | Asmundur Oddsson |Patrick Sulem |Gardar Sveinbjornsson |Gudny A. Arnadottir |Valgerdur Steinthorsdottir |Gísli H. Halldórsson | +41 more
Author notesThese authors contributed equally: Asmundur Oddsson, Patrick Sulem. These authors jointly supervised this work: Kari Stefansson, Daniel F. Gudbjartsson. Authors and AffiliationsdeCODE genetics/Amgen, Inc., Reykjavik, IcelandAsmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O.
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Jun 10, 2023 | 
nature.com | Asmundur Oddsson |Patrick Sulem |Gardar Sveinbjornsson |Gudny A. Arnadottir |Valgerdur Steinthorsdottir |Gísli H. Halldórsson | +41 more
Study samples and ethics declarationsFor Iceland, this study is based on whole-genome sequence data from the white blood cells of 49,708 Icelanders participating in various disease projects at deCODE Genetics14. In addition, a total of 155,250 Icelanders have been genotyped using Illumina SNP chips. All participating individuals who donated blood or buccal tissue samples, or their guardians, provided written informed consent.
