Thrombophilia as a Multigenic Disorder

• References

• 1 Lane DA, Mannucci PM, Bauer KA, Benina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlback B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 1. Thromb Haemost 1996; 76: 651-652
• 2 Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlback B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 2. Thromb Haemost 1996; 76: 823-834
• 3 Miletich JP, Prescott SM, White R, Majerus PW, Bovill EG. Inherited predisposition to thrombosis. Cell 1993; 72: 477-480
• 4 Dahlback B. Inherited thrombophilia: Resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood 1995; 85: 607-614
• 5 Falcon CR, Cattaneo M, Panzeri D, Martinelli I, Mannucci PM. High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. Arterioscl Thromb 1994; 14: 1080-1083
• 6 Den HeijerM, Blom HJ, Gerrits WB, Rosendaal FR, Haak HL, Wijermans PW, Bos GMJ. Is hyperhomocysteinemia a risk factor for recurrent venous thrombosis?. Lancet 1995; 345: 882-885
• 7 Fermo I, D’Angelo SV, Paroni R, Mazzola G, Calori G, D’Angelo A. Prevalence of moderate hyperhomocysteinemia in patients with early-onset venous and arterial occlusive disease. Ann Int Med 1995; 123: 747-753
• 8 Simioni P, Prandoni P, Burlina A, Tormene D, Sardella C, Ferrari V, Benedetti L, Girolami A. Hyperhomocysteinemia and deep-vein thrombosis. Thromb Haemost 1996; 76: 883-886
• 9 Den HeijerM, Koster T, Blom JH, Bos GMJ, Briet E, Reitsma PH, Vandenbroucke JP, Rosendaal FR. Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med 1996; 334: 759-762
• 10 Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. JAMA 1995; 274: 1049-1057
• 11 Mudd SH, Levy HL, Skovby B. Disorders of trans-sulfuration. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CT, Beaudet AL, Sly WS, Valle D. (eds). 7. th ed McGraw-Hill; New York: 1995. pp 1279-1327
• 12 Kang SS, Wong PWK, Susmano A, Sora J, Morusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991; 48: 536-545
• 13 Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den HeijerM, Kluigtmans LAJ, van denHeuvelLP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995; 10: 111-113
• 14 Kluijtmans LAJ, van den HeuvelLPWJ, Boers GHJ, Fross P, Stevens EMB, van Oost BA, den Jeijer M, Trijbels FJM, Rozen R, Blom HJ. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 35-41
• 15 Motulsky AG. Nutritional ecogenetics: Homocysteine-related arteriosclerotic vascular disease neural tube defects and folic acid. Am J Hum Genet 1996; 58: 17-20
• 16 Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briet E. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 1993; 341: 134-138
• 17 Ben-Tal O, Zivelin A, Seligsohn U. The relative frequency of hereditary thrombotic disorders among 107 patients with thrombophilia in Israel. Thromb Haemost 1989; 61: 50-54
• 18 Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84: 1031-1035
• 19 Seligsohn U, Berger A, Abend M, Rubin L, Attias D, Zivelin A, Rapaport SI. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med 1984; 310: 559-562
• 20 Brenner B, Zivelin A, Lanir N, Greengard JS, Griffin JH, Seligsohn U. Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis. Blood 1996; 88: 877-880
• 21 Gandrille SG, Greengard JS, Alhenc-Geleas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH, Aiach M. The French Network on behalf of INSERM. Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. Blood 1995; 86: 219-224
• 22 Hallam PJ, Millar DS, Krawczak M, Kakkar VV, Cooper DN. Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. J Med Genet 1995; 32: 543-545
• 23 Gandrille S, Borgel D, Aiach M. The French Network INSERM on molecular abnormalities responsible for protein C and protein S deficiencies. Incidence of activated protein C resistance due to ARG 506 GLN mutation in factor V in 116 unrelated propositus from families with protein S deficiency. Thromb Haemost 1995; 73: 1372 (abst)
• 24 Zoller B, Bemtsdotter A, de Frutos PG, Dahlback B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-3523
• 25 Koeleman BPC, van Rumpt D, Hamulyak K, Reitsma PH, Bertina RM. Factor V Leiden: An additional risk factor for thrombosis in protein S deficient families?. Thromb Haemost 1995; 74: 580-583
• 26 Beauchamp NJ, Daly ME, Cooper PC, Makris M, Preston FE, Peake IR. Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden. Blood 1996; 88: 1700-1707
• 27 Van BovenHH, Reitsma PH, Rosendaal FR, Bayston TA, Chowdhuiy V, Bauer KA, Scharrer I, Conrad J, Lane DA. Factor Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost 1996; 75: 417-421
• 28 Ireland H, Bayston TA, Chowdhury V, Thein SL, Conard J, Pabinger I, Lane DA. Factor V Leiden as an independent risk factor for thrombosis in antithrombin deficiency type II. Heparin binding site. Thromb Haemost 1995; 73: 1361 (Abst)
• 29 Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, Fowler B, Seligsohn U. Coexistence of hereditary homocystinuria and factor V Leiden — Effect on thrombosis. N Engl J Med 1996; 334: 763-768
• 30 D’Angelo A, Fermo I, D’Angelo SV. Thrombophilia, homocystinuria, and mutation of the factor V gene. N Engl J Med 1996; 335: 289
• 31 Trillot N, Preudhomme C, Alhence-Gelas M, Gaveriaux V, Bauters A, Gandrille S, Aiach M, Jude B. Thermolabile methylene tetrahydrofolate reductase (MTHFR) does not modify the risk for venous thromboembolism in subjects with heterozygous factor V Leiden. Blood 1996; 88 01 284a
• 32 Peng F, Triplett D, Bama L. Evaluation of patients with thrombosis for coexistence of factor V Leiden and methylenetetra- hydrofolate reductase C677T thermolabile mutation. Haemostasis 1996; 26 (Suppl. 03) 446 a
• 33 Cattaneo M, Tsai MY, Bucciarelli P, Taili E, Zighetti ML, Bignell M, Mannucci PM. A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor ViQ⁵⁰⁶). Blood 1996; 88 (Suppl. 01) 285 a
• 34 Greengard JS, Alhence-Gelas M, Gandrille S, Emmerich J, Aiach M, Griffin JH. Pseudo-homozygous protein C resistance due to coinheritance of heterozygous factor V-R506Q and type I factor deficiency associated with thrombosis. Thromb Haemost 1995; 73: 1361 (Abst)
• 35 Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A. “Pseudo homozygous” activated protein C resistance due to double heterozygous factor V defects (factor Leiden mutation and type I quantitative factor V defect) associated with thrombosis. Report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996; 75: 422-426
• 36 Zehnder L, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. Blood Coagul Fibrinol 1996; 07: 361-362
• 37 Nichols WC, Amano K, Cacheris PM, Figueiredo MS, Michaelides K, Schwaab R, Hoyer L, Kaufman RJ, Ginsburg D. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 1996; 88: 1183-1187
• 38 Chan J, Weinmann AF, Thompson AR. Factor V Arg/Gln⁵⁰⁶has no dominant influence on the severity of hemophilia when inherited concurrently. Thromb Haemost 1995; 73: 1368 a
• 39 Arbini AA, Mannucci PM, Bauer KA. Low prevalence of the factor V Leiden mutation among “severe” hemophiliacs with a “Milder” bleeding diathesis. Thromb Haemost 1995; 74: 1255-1258
• 40 Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-1134
• 41 Zivelin A, Griffin JH, Xu X, Pabinger I, Samama M, Conard J, Brenner B, Eldor A, Seligsohn U. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood. in press
• 42 Dahlback B. Are we ready for factor V Leiden screening?. Lancet 1996; 347: 1346-1347
• 43 Tosetto A, Gatto E, Rodeghiero F. APC resistance (FV Leiden) has a higher prevalence in females. Preliminary results from the Vicenza thrombophilia and arteriosclerosis (VITA) project. Thromb Haemost 1995; 73: 1124 a
• 44 Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996; 93: 07-09
• 45 Jobin F, Vu L, Lessard M. Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin m, heparin cofactor II, protein C and protein S. Thromb Haemost 1991; 66: 295-299
• 46 Zoller B, He X, Dahlback B. Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. Thromb Haemost 1995; 73: 743-745
• 47 Koller H, Stoll G, Sitzer M, Burk M, Schottler B, Freund JH. Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. Neurol 1994; 44: 1238-1240
• 48 Franken DG, Vreugdenhil A, Boers GHJ, Verrips A, Blom HJ, Novakova IRO. Familiar cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1. Stroke 1993; 24: 1599-1600
• 49 Ironi A, Lubetzky A, Seligsohn U. Massive thrombosis in a patient doubly homozygous for FV-R506Q and MTHFR- thermolability. Unpublished
• 50 Gallagher PM, Meleady R, Shields DC, Kok SoonT, McMaster RozenR, Evans A, Graham IM, Whitehead AS. Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation 1996; 94: 2154-2158
• 51 Wilcken DEL, Wang XL, Sim AS, McCredie RM. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler Thromb Vase Biol 1996; 16: 878-882
• 52 Schmitz C, Lindpainter K, Verhoef P, Graziano JM, Buring J. Genetic polymorphism of methylenetetrahydrofolate reductase and myocardial infarction. A case-control study. Circulation 1996; 94: 1812-1814
• 53 Deloughery TG, Evans A, Sadeghi A, McWilliams J, Henner WD, Taylor Jr LM, Press RD. Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine metabolism and late-onset vascular disease. Circulation 1996; 94: 3074-3078
• 54 Adams M, Smith PD, Martin D, Thompson JR, Lodwick D, Samani NJ. Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction. Q J Med 1996; 89: 437-444
• 55 Ma J, Stampfer MJ, Hennekens CH, Frosst P, Selhub J, Horsford J, Malinow MR, Willet WC, Rozen R. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation 1996; 94: 2410-2416