Elig.phs000289.v2.p1.1
Item
*VTE CASES* **Inclusion Criteria:** VTE cases were consecutive Mayo Clinic outpatients with objectively-confirmed deep vein thrombosis (DVT) and/or pulmonary embolism (PE) residing in the upper Midwest and referred by Mayo Clinic physicians to the Mayo Clinic Special Coagulation Laboratory for clinical diagnostic testing to evaluate for an acquired or inherited thrombophilia, or to the Mayo Clinic Thrombophilia Center, who consented to provide a blood sample for DNA extraction, storage and use for research purposes, and to sending that DNA sample outside of the Mayo Clinic for research purposes. Any person contacted to be a control but discovered to have had a VTE was evaluated for inclusion as a case. Cases were primarily residents of the state of Minnesota, but also from Wisconsin, Iowa, Michigan, Illinois, North or South Dakota, Nebraska, Kansas, Missouri and Indiana. A DVT or PE was categorized as objectively diagnosed when (a) confirmed by venography or pulmonary angiography, or pathology examination of thrombus removed at surgery, or (b) if at least one non-invasive test (compression duplex venous ultrasonography, ventilation/perfusion lung scan, computed tomography angiography or venography, magnetic resonance imaging angiography or venography) was positive.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C1861172 (UMLS CUI [1,3])
C0029921 (UMLS CUI [2,1])
C1271091 (UMLS CUI [2,2])
C0149871 (UMLS CUI [2,3])
C0034065 (UMLS CUI [2,4])
C0583803 (UMLS CUI [2,5])
C0220825 (UMLS CUI [2,6])
C2585317 (UMLS CUI [2,7])
C2584620 (UMLS CUI [2,8])
C0021430 (UMLS CUI [2,9])
C0005834 (UMLS CUI [2,10])
C0009932 (UMLS CUI [3,1])
C0262926 (UMLS CUI [3,2])
C1861172 (UMLS CUI [3,3])
C4684720 (UMLS CUI [4,1])
C0149871 (UMLS CUI [4,2])
C0034065 (UMLS CUI [4,3])
C0521093 (UMLS CUI [4,4])
C0031545 (UMLS CUI [4,5])
C0677490 (UMLS CUI [4,6])
C0919386 (UMLS CUI [4,7])
C4684720 (UMLS CUI [5,1])
C0149871 (UMLS CUI [5,2])
C0034065 (UMLS CUI [5,3])
C1446409 (UMLS CUI [5,4])
C0199172 (UMLS CUI [5,5])
C2321852 (UMLS CUI [5,6])
C0560738 (UMLS CUI [5,7])
C4029593 (UMLS CUI [5,8])
C0243032 (UMLS CUI [5,9])
Elig.phs000289.v2.p1.2
Item
**Exclusion Criteria:** Non-U.S. residents, and patients with VTE related to active cancer, antiphospholipid syndrome, inflammatory bowel disease, vasculitis, a rheumatoid or other autoimmune disorder, a vascular anomaly (e.g., Klippel-Trénaunay syndrome, etc.), heparin-induced thrombocytopenia, or a mechanical cause for DVT (e.g., arm DVT or SVC thrombosis related to a central venous catheter or transvenous pacemaker, portal and/or splenic vein thrombosis related to liver cirrhosis, IVC thrombosis related to retroperitoneal fibrosis, etc.), with hemodialysis arteriovenous fistula thrombosis, or with prior liver or bone marrow transplantation were excluded. A detailed list of additional excluded disorders is as follows:
boolean
C0680251 (UMLS CUI [1,1])
C2983715 (UMLS CUI [2,1])
C1861172 (UMLS CUI [3,1])
C2826292 (UMLS CUI [3,2])
C0085278 (UMLS CUI [3,3])
C0021390 (UMLS CUI [3,4])
C0042384 (UMLS CUI [3,5])
C0003873 (UMLS CUI [3,6])
C0004364 (UMLS CUI [3,7])
C0158570 (UMLS CUI [3,8])
C0272285 (UMLS CUI [3,9])
C0038442 (UMLS CUI [3,10])
C0019004 (UMLS CUI [4,1])
C0340909 (UMLS CUI [5,1])
C1514463 (UMLS CUI [6,1])
C0023911 (UMLS CUI [6,2])
C0005961 (UMLS CUI [6,3])
Elig.phs000289.v2.p1.3
Item
*List of Excluded Disorders*
boolean
C0680251 (UMLS CUI [1,1])
C0745732 (UMLS CUI [1,2])
Elig.phs000289.v2.p1.4
Item
Myeloproliferative or myelodysplastic disorders, including paroxysmal nocturnal hemoglobinuria (PNH)
boolean
C0027022 (UMLS CUI [1,1])
C3463824 (UMLS CUI [1,2])
C0024790 (UMLS CUI [1,3])
Elig.phs000289.v2.p1.5
Item
Acute or chronic leukemia, or other hematologic cancers
boolean
C0023487 (UMLS CUI [1,1])
C0023434 (UMLS CUI [1,2])
C0376545 (UMLS CUI [1,3])
Elig.phs000289.v2.p1.6
Item
Antiphospholipid antibodies, lupus anticoagulant, anticardiolipin antibodies, anti β2-glycoprotein 1 antibodies
boolean
C0162595 (UMLS CUI [1,1])
C4321325 (UMLS CUI [1,2])
C0162596 (UMLS CUI [1,3])
C0946490 (UMLS CUI [1,4])
Elig.phs000289.v2.p1.7
Item
Rheumatoid disorders (systemic lupus erythematosus, rheumatoid arthritis, progressive systemic sclerosis (scleroderma), dermatomyositis/polymyositis, mixed connective tissue disease, eosinophilic myalgia, Behcet's disease, thromboangiitis obliterans (Buerger's disease), inflammatory myocarditis, idiopathic pulmonary fibrosis)
boolean
C0024141 (UMLS CUI [1,1])
C0003873 (UMLS CUI [1,2])
C0036421 (UMLS CUI [1,3])
C0011633 (UMLS CUI [1,4])
C0026272 (UMLS CUI [1,5])
C0333930 (UMLS CUI [1,6])
C0231528 (UMLS CUI [1,7])
C0004943 (UMLS CUI [1,8])
C0040021 (UMLS CUI [1,9])
C0027059 (UMLS CUI [1,10])
C1800706 (UMLS CUI [1,11])
Elig.phs000289.v2.p1.8
Item
Other autoimmune disorders (autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura [ITP], thrombotic thrombocytopenic purpura [TTP], chronic active hepatitis)
boolean
C0002880 (UMLS CUI [1,1])
C0398650 (UMLS CUI [1,2])
C2584777 (UMLS CUI [1,3])
C0241910 (UMLS CUI [1,4])
Elig.phs000289.v2.p1.9
Item
Disseminated intravascular coagulation (intravascular coagulation and fibrinolysis)
boolean
C0012739 (UMLS CUI [1,1])
Elig.phs000289.v2.p1.10
Item
Vasculitis (Wegener's granulomatosis, polyarteritis nodosa, giant cell arteritis/polymyalgia rheumatica, hypersensitivity angiitis, Takayasu's disease)
boolean
C3495801 (UMLS CUI [1,1])
C0031036 (UMLS CUI [1,2])
C0039483 (UMLS CUI [1,3])
C0032533 (UMLS CUI [1,4])
C0155758 (UMLS CUI [1,5])
C0039263 (UMLS CUI [1,6])
Elig.phs000289.v2.p1.11
Item
*VTE CONTROLS* **Inclusion Criteria:** A Mayo Clinic outpatient control group was prospectively recruited for this study. Controls were frequency-matched on the age group (18-29, 30-39, 40-49, 50-59, 60-69, 70-79, and 80+ years), sex, myocardial infarction/stroke status, and state of residence distribution of the cases. We selected clinic-based controls using a controls' database of persons undergoing general medical examinations in the Mayo Clinic Departments of General Internal Medicine or Primary Care Internal Medicine. Additionally persons undergoing evaluation at the Mayo Clinic Sports Medicine Center, and the Department of Family Medicine were screened for inclusion as controls.
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0024908 (UMLS CUI [2,1])
C0001779 (UMLS CUI [2,2])
C0079399 (UMLS CUI [2,3])
C0027051 (UMLS CUI [2,4])
C0038454 (UMLS CUI [2,5])
C0449438 (UMLS CUI [2,6])
C1830433 (UMLS CUI [2,7])
Elig.phs000289.v2.p1.12
Item
**Exclusion Criteria:** Potential controls with the following were excluded: prior superficial or deep vein thrombosis, prior pulmonary embolism, active cancer, antiphospholipid antibody syndrome, rheumatologic or other autoimmune disorder, or prior bone marrow or liver transplant.
boolean
C0680251 (UMLS CUI [1,1])
C0235511 (UMLS CUI [1,2])
C0149871 (UMLS CUI [1,3])
C0034065 (UMLS CUI [1,4])
C0006826 (UMLS CUI [1,5])
C0085278 (UMLS CUI [1,6])
C1328842 (UMLS CUI [1,7])
C0004364 (UMLS CUI [1,8])
C0005961 (UMLS CUI [1,9])
C0023911 (UMLS CUI [1,10])