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Investigation of homocysteine-pathway-related variants in essential hypertension

Javed Y Fowdar1, Marta V Lason, Attila L Szvetko

  • 1Genomics Research Centre, Griffith Health Institute, Gold Coast Campus, Griffith University, Southport, QLD 4222, Australia.

International Journal of Hypertension
|November 8, 2012
PubMed

Insights

This study investigated the link between homocysteine (Hcy) pathway gene variants and essential hypertension (EH). Researchers found no significant individual or interactive associations, suggesting these Hcy markers do not play a role in hypertension development.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Metabolic Pathways

Background:

  • Hyperhomocysteinemia (hHcy) is linked to cardiovascular disease and stroke.
  • Essential hypertension (EH), a complex genetic disorder, also increases cardiovascular risk.

Purpose of the Study:

  • To investigate the association between homocysteine (Hcy) metabolism pathway gene variants and essential hypertension (EH).
  • To explore potential epistatic interactions among Hcy pathway gene polymorphisms in EH.

Main Methods:

  • Case-control association study of Caucasian hypertensives and normotensives.
  • Genotyping of MTHFR (C677T, A1298C), MTRR (A66G), and MTHFD1 (G1958A) polymorphisms.
  • Chi-square analysis and multifactor dimensionality reduction (MDR) for association and interaction analyses.

Main Results:

  • No single polymorphism in MTHFR, MTRR, or MTHFD1 showed a significant association with EH.
  • A moderate synergistic interaction between MTHFR A1298C and MTRR A66G was observed but not statistically significant (P = 0.2367).

Conclusions:

  • The study found no evidence of individual or interactive genetic associations between the investigated Hcy pathway markers and essential hypertension.
  • These findings do not support a role for these specific Hcy pathway gene variants in the pathogenesis of EH.

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