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

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.