Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene polymorphisms and associated risk of cardiovascular diseases: A study from Jammu region.
OBJECTIVE
Potent risk factors at both genetic and non-genetic levels are accountable for susceptibility and instigation of different cardiovascular phenotypes. Recently, homocysteine is being identified as an important predictor for cardiovascular diseases. Homocysteine remethylation plays a key role in the synthesis of methionine and S-adenosine methionine. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTR) genes are known to regulate the homocysteine remethylation reaction and higher homocysteine level is significantly associated with diverse cardiovascular phenotypes. In this context, we aimed to carry out a study on the association of MTHFR (C677T) and MTR (A2756G) gene polymorphism with CVD in population of Jammu region of J&K state.


METHODS
A total of 435 individuals were enrolled (195 CVD patients and 240 controls) for the case-control study. Genotyping of MTHFR C677T and MTR A2756G gene polymorphism was done by PCR-RFLP technique. Biochemical parameters were estimated by biochemical analyser.


RESULTS
Metabolic variables such as serum LDL-C, TC and TG were significantly higher in patients (p<0.0001), whereas serum HDL-C was higher in controls. Majority of the patients were having history of hypertension (57.44%; p<0.0001) as a concomitant condition. The evaluation of genetic association showed that, MTHFR C6877T (OR: 8.89, 95% CI: 2.01-39.40) and MTR A2756G (OR: 1.48, 95% CI: 1.09-2.00) polymorphisms associated with higher risk of CVD.


CONCLUSIONS
The present study reveals significant differences in nongenetic variables among patients and control as well as association of gene polymorphisms with CVD risk.
Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India.
Jyotdeep K
JK
Raina
Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India.
Minakashee
M
Sharma
Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India.
Rakesh K
RK
Panjaliya
Department of Zoology, University of Jammu, India.
Minakshi
M
Bhagat
Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India; Department of Zoology, University of Jammu, India.
Ravi
R
Sharma
Department of Cardiology, Acharaya Shri Chander College of Medical Sciences and Hospital (ASCOMS), Sidhra, Jammu, India.
Ashok
A
Bakaya
Principal Investigator, Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India; Assistant Professor, Department of Zoology, University of Jammu, India. Electronic address: parvinderkb2003@gmail.com.
Parvinder
P
Kumar
D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D002318:Cardiovascular Diseases / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors
D015415:Biomarkers; D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
CVD; MTHFR; MTR; Polymorphism