Family and twin studies have indicated a strong hereditary component in VTE. Before the start of this project in 2010, only a few identified gene variants were associated with VTE risk, a major proportion of the VTE risk was assumed to be attributed to genetic variants at the population level.
VTE has a strong hereditary component (Illustration: MostPhotos.com)
The overall aims of this project is to discover novel gene variants for VTE and to investigate gene-environmental interactions. We have exome sequenced 920 participants in a case-control study, and genotyped 17 established prothrombotic genotypes in a case-cohort study (derived from the Tromsø study). In addition, we use data from the Trøndelag Health Study (where we have validated and recorded all VTEs) where >50000 individuals have been genotyped. We explore joint effects of individual gene variants and combinations of gene variants in a genetic risk score (GRS), together with environmental factors (e.g. body height and obesity) and co-morbidities (e.g. cancer, AF, MI, and stroke). We are also contributing with summary genetic data to the INVENT consortium, which currently (2022) includes almost 137,000 VTEs and 1.1 mill. controls from 30 studies. We perform quantitative trait loci (pQTL) analyses in Tromsø and HUNT to detect single SNPs associated with exposures of interest, and conduct 2-sample Mendelian Randomization analyses using data from the INVENT-VTE consortium to assess the probability of causal relations between the exposures and VTE.
Principal Investigator: John-Bjarne Hansen
External Collaborators: Nicholas L. Smith (School of Public Health, University of Washington), Kristian Hveem and Therese Nøst (HUNT Center for Molecular and Clinical Epidemiology, NTNU), Kelly Frazer (Department of Pediatrics and Genome Information Sciences, University of California)
