Journal Article

The A1298C Mutation in Methylenetetrahydrofolate Reductase Gene and Its Association With Idiopathic Venous Thrombosis in an Iranian Population

Mohammad Soleyman Soltanpour, Zahra Soheili, Ali Akbar Pourfathollah, Shahram Samiei, Reza Meshkani, Ali Asghar Kiani, Safa Majid, Zahra Ataei and Mahnaz Kavari

in Laboratory Medicine

Published on behalf of American Society for Clinical Pathology

Volume 42, issue 4, pages 213-216
Published in print April 2011 | ISSN: 0007-5027
Published online October 2015 | e-ISSN: 1943-7730 | DOI: http://dx.doi.org/10.1309/LM5LWXCHVZY9RFOM
The A1298C Mutation in Methylenetetrahydrofolate Reductase Gene and Its Association With Idiopathic Venous Thrombosis in an Iranian Population

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  • Clinical Cytogenetics and Molecular Genetics
  • Molecular and Cell Biology
  • Molecular Biology and Genetics

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Background:

Venous thrombosis (VT) is an important cause of mortality and morbidity resulting from acquired and inherited factors. The A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene remains a controversial risk factor for VT. In this study we investigated a possible association between A1298C mutation in the MTHFR gene and fasting hyperhomocysteinemia with VT.

Materials and Methods:

The study was comprised of 200 patients with a diagnosis of VT and 100 healthy subjects as a control. A1298C mutation analysis was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and homocysteine measurement was carried out by enzyme immunoassay.

Results:

The prevalence of A1298C genotypes between patients and controls was almost similar (P=0.9). The frequency of the 1298C allele was 38.5% and 36.5% in patients and controls, respectively, and did not differ significantly between the 2 groups (odds ratio [OR], 0.811, 95% CI [0.566–1.183], P=0.29). The fasting plasma total homocysteine level was significantly higher in patients than controls (P=0.001).

Conclusions:

We concluded that hyperhomocysteinemia but not MTHFR A1298C mutation is a significant risk factor for VT in the Iranian population.

Keywords: methylenetetrahydrofolate reductase; venous thrombosis; homocysteine; polymerase chain reaction-restriction fragment length polymorphism

Journal Article.  2806 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics ; Molecular and Cell Biology ; Molecular Biology and Genetics

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