Cristina Hotoleanu1, Adrian Trifa2, Radu Popp2, Daniela Fodor1. 1. Medicala II Department, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania. 2. Genetics Department, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania.
Abstract
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors. AIMS: We aimed to assess the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic venous thromboembolism (VTE) in a Romanian population and the associated risk of VTE. STUDY DESIGN: We performed a case-control transversal study including 90 patients diagnosed with VTE and 75 sex- and age-matched controls. METHODS: MTHFR C677T and A1298C polymorphisms were detected using PCR-RFLP method. RESULTS: The homozygous MTHFR 677TT genotype, present in 18.8% of patients with VTE versus 6.6% of controls, was significantly associated with VTE (p= 0.021, OR= 3.26, 95%CI (1.141-9.313)). The heterozygous MTHFR A1298C genotype, presenting the highest prevalence in the VTE group (34.4%) as well as in controls (37.3%), was not associated with VTE (p=0.7). No associations were found for heterozygous MTHFR C677T (with a frequency of 32.2% in VTE and 37.3% in controls, p=0.492), respective homozygous MTHFR A1298C genotype (with a frequency of 1.1% in VTE and 2.6% in controls, p=0.456). CONCLUSION: Among MTHFR polymorphisms, only homozygosity for MTHFR 677TT may be considered a risk factor for VTE; the MTHFR A1298C polymorphism is not significantly associated with an increased risk of VTE.
BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors. AIMS: We aimed to assess the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic venous thromboembolism (VTE) in a Romanian population and the associated risk of VTE. STUDY DESIGN: We performed a case-control transversal study including 90 patients diagnosed with VTE and 75 sex- and age-matched controls. METHODS:MTHFRC677T and A1298C polymorphisms were detected using PCR-RFLP method. RESULTS: The homozygous MTHFR 677TT genotype, present in 18.8% of patients with VTE versus 6.6% of controls, was significantly associated with VTE (p= 0.021, OR= 3.26, 95%CI (1.141-9.313)). The heterozygous MTHFRA1298C genotype, presenting the highest prevalence in the VTE group (34.4%) as well as in controls (37.3%), was not associated with VTE (p=0.7). No associations were found for heterozygous MTHFRC677T (with a frequency of 32.2% in VTE and 37.3% in controls, p=0.492), respective homozygous MTHFRA1298C genotype (with a frequency of 1.1% in VTE and 2.6% in controls, p=0.456). CONCLUSION: Among MTHFR polymorphisms, only homozygosity for MTHFR 677TT may be considered a risk factor for VTE; the MTHFRA1298C polymorphism is not significantly associated with an increased risk of VTE.
Authors: H G Koch; P Nabel; R Junker; K Auberger; R Schobess; A Homberger; M Linnebank; U Nowak-Göttl Journal: Eur J Pediatr Date: 1999-12 Impact factor: 3.183
Authors: G Pernod; C Biron-Andreani; P-E Morange; F Boehlen; J Constans; F Couturaud; L Drouet; B Jude; T Lecompte; G Le Gal; N Trillot; D Wahl Journal: J Mal Vasc Date: 2009-05
Authors: M Margaglione; G D'Andrea; M d'Addedda; N Giuliani; G Cappucci; L Iannaccone; G Vecchione; E Grandone; V Brancaccio; G Di Minno Journal: Thromb Haemost Date: 1998-05 Impact factor: 5.249
Authors: José Ramón González-Porras; Ramón García-Sanz; Ignacio Alberca; María Luz López; Ana Balanzategui; Oliver Gutierrez; Francisco Lozano; Jesús San Miguel Journal: Blood Coagul Fibrinolysis Date: 2006-01 Impact factor: 1.276
Authors: F Couturaud; E Oger; J H Abalain; E Chenu; B Guias; H H Floch; B Mercier; D Mottier; C Leroyer Journal: Respiration Date: 2000 Impact factor: 3.580