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Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis

Mohammad Soleiman Soltanpour1, Zahra Soheili, Ali Shakerizadeh

  • 1Department of Laboratory Sciences, School of Paramedical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences
|November 20, 2013
PubMed

Insights

High homocysteine (Hcy) levels, not the MTHFR C677T mutation, are linked to retinal vein thrombosis (RVT). This study found elevated Hcy in RVT patients, suggesting hyperhomocysteinemia as a risk factor.

Area of Science:

  • Ophthalmology
  • Cardiovascular Medicine
  • Genetics

Background:

  • Elevated plasma homocysteine (Hcy) is a known risk factor for venous thrombosis and cardiovascular disease.
  • The methylenetetrahydrofolate reductase (MTHFR) C677T mutation is associated with increased Hcy and may contribute to retinal vein thrombosis (RVT).

Purpose of the Study:

  • To investigate the association between hyperhomocysteinemia and/or the MTHFR C677T mutation and the risk of developing RVT.

Main Methods:

  • A case-control study involving 73 RVT patients and 73 age- and sex-matched controls.
  • Genotyping for the MTHFR C677T mutation using polymerase chain reaction-restriction fragment length polymorphism.
  • Measurement of plasma total Hcy levels via enzyme immunoassay.

Main Results:

  • The 677TT genotype and 677T allele frequencies did not significantly differ between RVT patients and controls.
  • Fasting plasma total Hcy levels were significantly higher in RVT patients compared to controls (P = 0.001).

Conclusions:

  • Hyperhomocysteinemia is significantly associated with an increased risk of retinal vein thrombosis (RVT).
  • The MTHFR C677T mutation alone is not a significant risk factor for RVT in this study population.
Abstract

Keywords:
Methylenetetrahydrofolate reductasemutationpolymerase chain reaction-restriction fragment length polymorphismretinal vein thrombosisthrombophilia

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