BACKGROUND: Possible association of inflammatory bowel disease (IBD) with the most common inherited prothrombotic conditions has been the focus of many investigations. Advance in modern molecular biology is expanding the thrombophilia evaluation steadily. We tried to put forward a comprehensive thrombophilic profile in IBD and to see the probable role of this profile in pathogenesis. METHODS: A total of 60 adults (33 patients and 27 healthy controls) were included. We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total of 12 thrombophilic gene mutations: Factor V R506Q, Factor V H1299R, prothrombin G20210A, Factor XIII V34L, beta-Fibrinogen-455 G-A, PAI-1 4G/5G, platelet GPIIIa L33P, MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q and Apo E2/E3/E4, respectively. Besides, we evaluated many related blood parameters such as protein C, protein S, AT-III, IL-6, TNF-alpha, Apo-A1, Apo-B100, homocysteine (tHcy) etc. using commercially available assays. RESULTS: The frequencies of genetic polymorphisms were found to be statistically insignificant among patients and controls, except for three: Beta-Fibrinogen-455G-A, MTHFR A1298C and ACE-I/D. Two patients with a history of deep venous thrombosis had more than one polymorphism. Patients with MTHFR C677T and MTHFR A1298C gene mutations had a similar mean tHcy levels with controls. Patients with Apolipoprotein B R3500Q and Apolipoprotein E4 gene mutations had similar mean LDL-cholesterol levels. Mean total cholesterol and triglyceride levels were similar in patients and controls of Apo E2, E3, E4 alleles. CONCLUSION: Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD. There was a statistical difference between the proportions of the mutated allele frequencies of Beta-Fibrinogen-455G-A, MTHFR A1298C and ACE-I/D in IBD.
BACKGROUND: Possible association of inflammatory bowel disease (IBD) with the most common inherited prothrombotic conditions has been the focus of many investigations. Advance in modern molecular biology is expanding the thrombophilia evaluation steadily. We tried to put forward a comprehensive thrombophilic profile in IBD and to see the probable role of this profile in pathogenesis. METHODS: A total of 60 adults (33 patients and 27 healthy controls) were included. We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total of 12 thrombophilic gene mutations: Factor V R506Q, Factor V H1299R, prothrombin G20210A, Factor XIII V34L, beta-Fibrinogen-455 G-A, PAI-1 4G/5G, platelet GPIIIa L33P, MTHFRC677T, MTHFRA1298C, ACE I/D, Apo B R3500Q and Apo E2/E3/E4, respectively. Besides, we evaluated many related blood parameters such as protein C, protein S, AT-III, IL-6, TNF-alpha, Apo-A1, Apo-B100, homocysteine (tHcy) etc. using commercially available assays. RESULTS: The frequencies of genetic polymorphisms were found to be statistically insignificant among patients and controls, except for three: Beta-Fibrinogen-455G-A, MTHFRA1298C and ACE-I/D. Two patients with a history of deep venous thrombosis had more than one polymorphism. Patients with MTHFRC677T and MTHFRA1298C gene mutations had a similar mean tHcy levels with controls. Patients with Apolipoprotein BR3500Q and Apolipoprotein E4 gene mutations had similar mean LDL-cholesterol levels. Mean total cholesterol and triglyceride levels were similar in patients and controls of Apo E2, E3, E4 alleles. CONCLUSION: Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD. There was a statistical difference between the proportions of the mutated allele frequencies of Beta-Fibrinogen-455G-A, MTHFRA1298C and ACE-I/D in IBD.
Authors: N M van der Put; F Gabreëls; E M Stevens; J A Smeitink; F J Trijbels; T K Eskes; L P van den Heuvel; H J Blom Journal: Am J Hum Genet Date: 1998-05 Impact factor: 11.025
Authors: H H Over; S Ulgen; T Tuğlular; A Tezel; E Avşar; G Geyik; S Başgül; N Sayhan; N Ulusoy; C Kalayci; N Tözün Journal: Eur J Gastroenterol Hepatol Date: 1998-10 Impact factor: 2.566
Authors: M den Heijer; T Koster; H J Blom; G M Bos; E Briet; P H Reitsma; J P Vandenbroucke; F R Rosendaal Journal: N Engl J Med Date: 1996-03-21 Impact factor: 91.245
Authors: Lukas Hefler; Stefan Jirecek; Kurt Heim; Christoph Grimm; Gisella Antensteiner; Robert Zeillinger; Peter Husslein; Clemens Tempfer Journal: J Soc Gynecol Investig Date: 2004-01
Authors: A P Dhillon; A Anthony; R Sim; A J Wakefield; E A Sankey; M Hudson; M C Allison; R E Pounder Journal: Histopathology Date: 1992-08 Impact factor: 5.087
Authors: Isabelle Cleynen; Peter Jüni; Geertruida E Bekkering; Eveline Nüesch; Camila T Mendes; Stefanie Schmied; Stefan Wyder; Eliane Kellen; Peter M Villiger; Paul Rutgeerts; Séverine Vermeire; Daniel Lottaz Journal: PLoS One Date: 2011-09-08 Impact factor: 3.240