Valgerdur Steinthorsdottir

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).

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.

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.

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.

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.