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1 month 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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Sep 14, 2024 | 
nature.com | Thorunn Olafsdottir |Gudmar Thorleifsson |Abhishek Niroula |Hannes P. Eggertsson |Gísli H. Halldórsson |Folkert W. Asselbergs | +9 more
AbstractImmunoglobulin G (IgG) is the main isotype of antibody in human blood. IgG consists of four subclasses (IgG1 to IgG4), encoded by separate constant region genes within the Ig heavy chain locus (IGH). Here, we report a genome-wide association study on blood IgG subclass levels. Across 4334 adults and 4571 individuals under 18 years, we discover ten new and identify four known variants at five loci influencing IgG subclass levels.
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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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Aug 4, 2024 | 
nature.com | Molly Went |Gísli H. Halldórsson |Andrea Gunnell |Philip J Law |Amit Sud |Gudmar Thorleifsson | +24 more
AbstractMultiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel.
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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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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.
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Sep 7, 2023 | 
nature.com | Alessia Faggian |Alessia David |Reedik Mägi |Emma Ahlqvist |Gudmar Thorleifsson |Robert Scott | +37 more
AbstractConventional measurements of fasting and postprandial blood glucose levels investigated in genome-wide association studies (GWAS) cannot capture the effects of DNA variability on ‘around the clock’ glucoregulatory processes. Here we show that GWAS meta-analysis of glucose measurements under nonstandardized conditions (random glucose (RG)) in 476,326 individuals of diverse ancestries and without diabetes enables locus discovery and innovative pathophysiological observations.
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May 10, 2023 | 
nature.com | Pol Sole-Navais |Valgerdur Steinthorsdottir |Marc Vaudel |Julius Juodakis |JING CHEN |Triin Laisk | +40 more
Author notesAnubha Mahajan & Mark I. McCarthyPresent address: Genentech, South San Francisco, CA, USAThese authors contributed equally: Ge Zhang, Bo Jacobsson.
