Association of Methylenetetrahydrofolate Reductase (MTHFR) A1298C Polymorphism with Lower High-Density Lipoprotein Cholesterol Level

  1. Koroush Khalighi1,2,3
  1. 1Easton Cardiovascular Associates, Easton, PA, USA
  2. 2Easton Hospital, Easton, PA, USA
  3. 3School of Medicine, Drexel University, Philadelphia, PA, USA
  4. 4Moravian Academy, Bethlehem, PA, USA
  1. Address correspondence to Koroush Khalighi, MD, CPE. FACP, FACC, FCCP, FHRS, CCDS. Medical Director of Cardiac Electrophysiology, Easton Hospital. Clinical Professor of Medicine, Drexel University. Easton Cardiovascular Associates, 2001 Fairview Ave, Easton, PA 18042, USA; phone: 610 258 4337; e mail: koroushkhalighi{at}gmail.com

Abstract

Background Evidences about the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and metabolic syndrome are controversial. The present study aimed to investigate if MTHFR gene polymorphisms MTHFR C677T and MTHFR A1298C are related to metabolic syndrome (MS).

Methods 318 patients were enrolled and single nucleotide polymorphisms for MTHFR C667T and A1298C were genotyped. BMI, fasting blood glucose level (FBG), total cholesterol (TC), low-density lipoprotein (LDL), High-density lipoprotein (HDL) and triglycerides (TG) were measured.

Results In our study population, there were no significant differences for BMI, FBG, TC, LDL, TG or any component disease of MS between MTHFR C667T, MTHFR A1298C wild type and variants. MTHFR A1298C wild type had significant higher HDL level than MTHFR A1298C variants (50.9±1.6 VS. 47.1±1.0, P=0.036). Binary logistic regression analysis also showed that MTHFR A1298C variants were significantly associated with lower HDL level (OR=0.963, 95%CI 0.93-0.99, P=0.027). General linear model showed that there was no statistically significant interaction between MTHFR C667T and A1298C gene polymorphism on HDL level. So the reduction in HDL in MTHFR 1298 variants was not due to its linkage disequilibrium with the C677T polymorphism or an interaction between MTHFR 677 and MTHFR 1298 genotypes.

Conclusion Our study suggests that MTHFR C667T gene polymorphism is not related to any components of metabolic syndrome. MTHFR 1298 variants were significantly associated with lower HDL level compared to MTHFR 1298 wild type.

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