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Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants

M Gaustadnes1, N Rüdiger, K Rasmussen

  • 1Department of Clinical Biochemistry, Skejby University Hospital, Aarhus, Denmark.

Thrombosis and Haemostasis
|April 26, 2000
PubMed

Insights

Elevated homocysteine (hyperhomocysteinemia) is a cardiovascular risk. Genetic factors like MTHFR and CBS mutations contribute to this condition, impacting thrombosis risk.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Biochemistry

Background:

  • Hyperhomocysteinemia, elevated plasma total homocysteine (tHcy), is an independent risk factor for cardiovascular disease.
  • Identifying genetic determinants of hyperhomocysteinemia is crucial for understanding thrombosis risk.

Purpose of the Study:

  • To investigate genetic factors, specifically methylene-tetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genotypes, associated with hyperhomocysteinemia in thrombosis patients.
  • To identify novel mutations in the CBS gene and assess their clinical significance.

Main Methods:

  • Genotyping for MTHFR 677C-->T and complete CBS gene sequencing was performed on 28 unrelated thrombosis patients with intermediate or severe hyperhomocysteinemia.
  • Analysis included correlation of genotypes with tHcy levels and comparison of genotype frequencies between patients and controls.

Main Results:

  • The MTHFR T/T genotype was significantly correlated with intermediate hyperhomocysteinemia (73.9% of cases).
  • Compound heterozygosity for CBS mutations, including two novel missense mutations (S422L and S466L), was found in 3 of 5 patients with severe hyperhomocysteinemia.
  • A combined MTHFR T/T genotype and CBS 844ins68 variant was a significant thrombotic risk factor (10.7% in patients vs. 1.2% in controls).

Conclusions:

  • MTHFR and CBS gene variations are important genetic contributors to hyperhomocysteinemia and associated thrombosis risk.
  • Screening for CBS mutations is vital in severe hyperhomocysteinemia cases to identify potential CBS deficiency for treatment.
  • The combined MTHFR T/T and CBS 844ins68 genotype represents a significant thrombotic risk factor.

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