NHLBI TOPMed: Whole Genome Sequencing of Venous Thromboembolism (WGS of VTE)

This study consists of 338 VTE cases from an inception cohort of Olmsted County, MN residents (OC) with a first lifetime objectively-diagnosed idiopathic VTE during the 40-year study period, 1966-2005. All living study subjects were invited to provide a whole blood sample at the Mayo Clinical Research Unit for leukocyte genomic DNA and plasma collection. For living study subjects who did not provide a blood sample, we retrieved any leftover blood ("waste" blood) from samples collected as part of routine clinical diagnostic testing and used this to extract DNA after obtaining patient consent. For deceased cases, with IRB approval, we extracted DNA from any available stored tissue within the Mayo Tissue Archive. This "tissue" DNA has been successfully genotyped in prior studies. Three trained and experienced study nurse abstractors reviewed the complete medical records in the community of all potential cases. Note: WGS sample IDs for the previous GENEVA study cases (phs000289) are included in this dataset. The phenotypes for the GENEVA study are located under the above phs number.]]>
TOPMed Whole Genome Sequencing Methods: Freeze 9TOPMed Whole Genome Sequencing Methods: Freeze 10For cases meeting our definition of an incident idiopathic deep vein thrombosis (DVT) or pulmonary embolism (PE) and our Olmsted County residency requirements, the study nurse abstractors collected information on date of incident VTE onset, VTE event type, patient age at incident VTE event date, gender, patient location at incident VTE event onset (community, hospital, or nursing home), vital status at last clinical contact, dates of initiation and completion of standard heparin, LMWH and warfarin therapy, date of first VTE recurrence and new exposures or new chronic diseases diagnosed or new anticoagulation therapy for an indication other than VTE (e.g., atrial fibrillation) in the interval between the incident and recurrent VTE. We excluded VTE cases that were not idiopathic (for example, if they were related to pregnancy or oral contraceptive pills (women only), hospitalization, trauma, surgery, and cancer).]]>