Mutations in clotting factors and inflammatory bowel disease

American Journal of Gastroenterology

Volumn 102, Issue 2, 2007, Pages 338-343

  Bernstein, Charles N ^a   Sargent, Michael ^a   Vos, Hans L ^b   Rosendaal, Frits R ^b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; PROTHROMBIN;

ADULT; AGE DISTRIBUTION; ALLELE; ARTICLE; CONTROLLED STUDY; CROHN DISEASE; DATA ANALYSIS; DNA PURIFICATION; ENTERITIS; FEMALE; GENE MUTATION; GENETIC RISK; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; SEX RATIO; THROMBOSIS; ULCERATIVE COLITIS; VEIN PUNCTURE; VEIN THROMBOSIS; WILD TYPE;

ADOLESCENT; ADULT; ALLELES; BLOOD COAGULATION; DNA; FACTOR V; FACTOR XIII; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFLAMMATORY BOWEL DISEASES; MALE; MANITOBA; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION; PREVALENCE; PROGNOSIS; PROTHROMBIN; RETROSPECTIVE STUDIES;

EID: 33846542418     PISSN: 00029270     EISSN: 15720241     Source Type: Journal    
DOI: 10.1111/j.1572-0241.2006.00974.x     Document Type: Article

References (36)

1. Orholm M, Munkholm P, Langholz E, et al. Familial occurrence of inflammatory bowel disease. N Engl J Med 1991;324:84-8.
2. Peeters M, Nevens H, Baert F, et al. Familial aggregation in Crohn's disease: Increased age-adjusted risk and concordance in clinical characteristics. Gastroenterology 1996;111:597-603.
3. Bernstein CN, Blanchard JF, Houston D, et al. The incidence of deep venous thrombosis and pulmonary embolism among patients with inflammatory bowel disease: A population-based cohort study. Thromb Haemost 2001;85:430-4.
4. Koster T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993;342:1503-6.
5. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A 1993;90:1004-8.
6. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7.
7. Rosendaal FR, Koster T, Vandenbroucke JP, et al. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995;85:1504-8.
8. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-703.
9. Catto AJ, Kohler HP, Coore J, et al. Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood 1999;93:906-8.
10. Van Hylckama Vlieg A, Komanasin N, Ariens RA, et al. Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis. Br J Haematol 2002;119:169-75.
11. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
12. Den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med 1996;334:759-62.
13. Kluijtmans LA, Den Heijer M, Reitsma PH, et al. Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis. Thromb Haemost 1998;79:254-8.
14. Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: A meta-analysis of published epidemiological studies. J Thromb Haemost 2005;3:292-9.
15. Bernstein CN, Blanchard JF, Rawsthorne P, et al. Epidemiology of Crohn's disease and ulcerative colitis in a central Canadian province: a population-based study. Am J Epidemiol 1999;149:916-24.
16. Bernstein CN, Rawsthorne P, Cheang M, et al. A population-based case control study of potential risk factors for IBD. Am J Gastroenterol 2006;101:1559-68.
17. Gasche C, Scholmerich J, Brynskov J, et al. A simple classification of Crohn's disease: Report of the Working Party for the World Congresses of Gastroenterology, Vienna, 1998. Inflamm Bowel Dis 2000;6:8-15.
18. Sachar DB, Bodian CA, Goldstein ES, et al. Is perianal Crohn's disease associated with intestinal fistulization? Am J Gastroenterol 2005;100:1547-9.
19. Tang LY, Rawsthorne P, Bernstein CN. In Crohn's disease is there an association between perineal fistulizing disease and luminal fistulizing disease? A population-based study. Gastoenterology 2005;128:A113.
20. Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet 1955;19:251-3.
21. Kader HA, Berman WF, Al-Seraihy AS, et al. Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2002;35:629-35.
22. Turri D, Rosselli M, Simioni P, et al. Factor V leiden and prothrombin gene mutation in inflammatory bowel disease in a Mediterranean area. Digest Liver Dis 2001;33:559-62.
23. Mahmood A, Needham J, Prosser J, et al. Prevalence of hyperhomocysteinemia, activated protein C resistance and prothrombin gene mutation in inflammatory bowel disease. Eur J Gastroenterol Hepatol 2005;17:739-44.
24. Vecchi M, Sacchi E, Saibeni S, et al. Inflammatory bowel diseases are not associated with major hereditary conditions predisposing to thrombosis. Dig Dis Sci 2000;45:1465-9.
25. Bjerregaard Larsen T, Nielsen JN, Fredholm L, et al. Hyperhomocysteinemia, coagulation pathway activation and thrombophilia in patients with inflammatory bowel disease. Scand J Gastroenterol 2002;37:62-7.
26. Helio T, Wartiovaara U, Halme L, et al. Arg506Gln factor V mutation and Val34Leu factor XIII polymorphism in Finnish patients with inflammatory bowel disease. Scand J Gastroenterol 1999;34:170-4.
27. Mahmud N, Molloy A, McPartlin J, et al. Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications. Gut 1999;45:389-94.
28. Magro F, Dinis-Ribeiro M, Araujo FM, et al. High prevalence of combined thrombophilic abnormalities in patients with inflammatory bowel disease. Eur J Gastroenterol Hepatol 2003;15:1157-63.
29. Saibeni S, Vecchi M, Faioni EM, et al. Val34Leu factor XIII polymorphism in Italian patients with inflammatory bowel disease. Dig Liver Dis 2003;35:32-6.
30. Hayat M, Ariens RAS, Moayyedi P, et al. Coagulation factor XIII and markers of thrombin generation and fiibrinolysis in patients with inflammatory bowel disease. Eur J Gastroenterol Hepatol 2002;14:249-56.
31. Cario E, Goebell H, Dignass AU. Factor XIII modulates intestinal epithelial wound healing in vitro. Scand J Gastroenterol 1999;34:485-90.
32. Noll T, Wozniak G, McCarson K, et al. Effect of factor XIII on endothelial barrier function. J Exp Med 1999;189:1373-82.
33. Fernandez-Miranda C, Martinez Prieto M, Casis Herce B, et al. Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-
34. D'Argenio G, Biancone L, Cosenza V, et al. Transglutaminases in Crohn's disease. Gut 1995;37:690-5.
35. Chamouard P, Grunebaum L, Wiesel ML, et al. Significance of diminished factor XIII in Crohn's disease. Am J Gastroenterol 1998;93:610-4.
36. Seitz R, Leugner F, Katschinski M, et al. Ulcerative colitis and Crohn's disease: Factor XIII, inflammation and haemostasis. Digestion 1994;55:361-7.