METHYLENETETRAHYDROFOLATE REDUCTASE C677T GENE POLYMORPHISM AND PREDISPOSITION TO ESSENTIAL HYPERTENSION

JYOTDEEP K. RAINA¹, RAKESH K. PANJALIYA², MINAKASHEE SHARMA³, ROHIT BHARDWAJ⁴, ASHOK BAKAYA⁵, PARVINDER KUMAR⁶*
¹Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India
²Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India
³Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India
⁴Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India
⁵Department of Cardiology, Acharaya Shri Chander College of Medical Sciences and Hospital (ASCOMS), Sidhra, Jammu, India
⁶Human Genetics Research cum Counselling Centre, University of Jammu, 180006, India; Department of Zoology, University of Jammu, India
* Corresponding Author : parvinderkb2003@rediffmail.com

Received : 09-05-2016     Accepted : 28-08-2016     Published : 07-09-2016
Volume : 8     Issue : 5       Pages : 207 - 210
Genetics 8.5 (2016):207-210

Keywords : EH, MTHFR, Homocysteine, SNP
Academic Editor : Dr. Palak Agarwal
Conflict of Interest : None declared
Acknowledgements/Funding : None declared
Author Contribution : None declared

Dysregulation of homocysteine pathway due to genetic alterations causes hyperhomocysteinemia induced persistent increase in blood pressure and potentially contributes to susceptibility of hypertension. Methylenetetrahydrofolate reductase (MTHFR) gene is a key modulator of homocysteine pathway and C677T SNP of this gene is linked to the progression of essential hypertension (EH). The present study was designed to investigate the association of MTHFR C677T polymorphism with predisposition to Essential Hypertension. The study was carried on 100 clinically confirmed patients with EH and 100 unrelated sex matched healthy control individuals. Different non-genetic parameters such as smoking status, alcohol intake, sedentary behaviour, family history and diet pattern were evaluated in the study subjects. Genotyping was carried out by polymerase chain reaction followed by restriction fragment length polymorphism method (PCR-RFLP). Logistic regression analysis was carried out to find association between the MTHFR genotypes/alleles and EH. A higher prevalence of non-genetic risk factors was observed in patients (smoking: 35%, physical inactivity: 32%). The genotypic frequency of homozygous wild CC and heterozygous CT genotype was 92% & 8% in patients whereas it was 99% & 1% in controls, respectively. The frequencies of CC vs. CT, CC vs. CT+TT and C vs T differed significantly between the two groups (p=0.02) studied/ analysed. The present study showed a significant association of MTHFR 677CT genotype and MTHFR 677T allele with the predisposition of EH in our population of Jammu region of Jammu & Kashmir State.