Expressive

rs10882398 - PLCE1

Magnitude 2.2 · 5 studies on file

Reported associations

  • Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications - Unknown journal (n.d.) · Unknown authors · PubMed 36553520

    ABSTRACT: Complications endangering mother or fetus affect around one in seven pregnant women. Investigation of the genetic susceptibility to such diseases is of high importance for better understanding of the disease biology as well as for prediction of individual risk. In this study, we collected and analyzed GWAS summary statistics from the FinnGen cohort and UK Biobank for 24 pregnancy complications. In FinnGen, we identified 11 loci associated with pregnancy hypertension, excessive vomiting, and gestational diabetes. When UK Biobank and FinnGen data were combined, we discovered six loci reaching genome-wide significance in the meta-analysis. These include rs35954793 in FGF5 (), rs10882398 in PLCE1 (), and rs167479 in RGL3 () for pregnancy hypertension, rs10830963 in MTNR1B () and rs36

  • A scalable variational inference approach for increased mixed-model association power - Unknown journal (n.d.) · Unknown authors · PubMed 39789286

    ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%

  • Genomic insights in ascending aortic size and distensibility - Unknown journal (n.d.) · Unknown authors · PubMed 34968759

    ABSTRACT: Summary Background Alterations in the anatomic and biomechanical properties of the ascending aorta (AAo) can give rise to various vascular pathologies. The aim of the current study is to gain additional insights in the biology of the AAo size and function. Methods We developed an AI based analysis pipeline for the segmentation of the AAo, and the extraction of AAO parameters. We then performed genome-wide association studies of AAo maximum area, AAo minimum area and AAo distensibility in up to 37,910 individuals from the UK Biobank. Variants that were significantly associated with AAo phenotypes were used as instrumental variables in Mendelian randomization analyses to investigate potential causal relationships with coronary artery disease, myocardial infarction, stroke and aneur

  • Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy - Unknown journal (n.d.) · Unknown authors · PubMed 37285119

    ABSTRACT: Key Points Question What are the genetic risk factors associated with preeclampsia and hypertensive disorders of pregnancy? Findings In this genome-wide association study, 13 novel preeclampsia- or hypertensive pregnancy-associated genetic loci were discovered. Seven loci are located near genes previously associated with blood pressure traits, and several harbor genes involved in the development of placenta, remodeling of uterine spiral arteries, and kidney function. Meaning The findings further strengthen the known association between cardiovascular health and preeclampsia and provide new targets for future research of preeclampsia pathophysiology, including genes involved in placental development and kidney function. This genome-wide association study seeks to identify geneti

  • Polygenic prediction of preeclampsia and gestational hypertension - Unknown journal (n.d.) · Unknown authors · PubMed 37248299

    ABSTRACT: Preeclampsia and gestational hypertension are common pregnancy complications associated with adverse maternal and child outcomes. Current tools for prediction, prevention and treatment are limited. Here we tested the association of maternal DNA sequence variants with preeclampsia in 20,064 cases and 703,117 control individuals and with gestational hypertension in 11,027 cases and 412,788 control individuals across discovery and follow-up cohorts using multi-ancestry meta-analysis. Altogether, we identified 18 independent loci associated with preeclampsia/eclampsia and/or gestational hypertension, 12 of which are new (for example, MTHFR-CLCN6, WNT3A, NPR3, PGR and RGL3), including two loci (PLCE1 and FURIN) identified in the multitrait analysis. Identified loci highlight the rol

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