Elevated homocysteine level is an independent risk factor for ischemic stroke, thrombotic and cardiovascular diseases. The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in regulating the levels of homocysteine. A C677T mutation in this gene results in reduced activity. Sixty-nine patients with arterial stroke, six patients with venous stroke (confirmed by computed tomography and/or magnetic resonance imaging) with hyperhomocysteinemia were selected for the study. Forty-nine subjects with no past history of stroke served as controls. MTHFR genotypes were determined by PCR using specific primers, followed by restriction digestion and gel analysis. The prevalence of the mutated homozygous and heterozygous C677T MTHFR genotype in the patients with arterial stroke was 1.4% (one of 69) and 31.88% (21 of 69), respectively. There frequency was 16.6% (one of six) and 33.3% (two of six) in venous stroke. The genotyping results from controls showed that there was only one heterozygote out of the 49 studied (2.08%). There was a significant difference between the control and the patient groups. Odds ratio for the probability of the C677T MTHFR gene mutation in the patients versus control group was 22.29 (95% CI 4.89-98.8). This indicates that C677T MTHFR mutation is strongly associated with arterial stroke especially in young adults. MTHFR allele evaluation will help in preventing/reducing morbidity caused by stroke.
This indicates that the 9-bp insertion-deletion repeat polymorphism plays a role in disease pathology, affecting the expression of the downstream genes of mtDNA and altering ATP generation.
Introduction:In the past few decades, rates of cardio vascular Disease (CVD) have increased from 4 to 11% in the Indian population. Gene polymorphisms play an important role in causing disease. A number of candidate genes have been associated with CVD. Studies suggest an association of CVD and polymorphisms with Angiotensinconverting enzyme (ACE). Angiotensin I is converted to a vasoconstrictor angiotensin II by ACE. Increase in angiotensin II can lead to the increase in blood pressure, inducing various cardiovascular problems. Increased ACE levels have been shown to be associated with D-allele.Methods: We analyzed 73 cases referred to the department of cardiothoracic surgery for cardiac surgery. The cases were categorized as coronary artery disease (CAD) (n=39), congenital heart disease-(CHD) (n=20), rheumatic heart disease (RHD) (n=14). 2 ml heparinised blood was collected prior to surgery. DNA was isolated and PCR for ACE genotype carried out using specific primers. The products were then run on 2 % agarose gel to identify the insertion (490 bp), insertion / deletion (490/190 bp) and deletion (190 bp) polymorphisms.Results: 74.3% CAD cases, 60% CHD cases and 57.1% of RHD cases showed the D-allele. These were compared with control group and our results showed that there was significant increase in the Dallele in CAD group with 'p' value < 0.05.
Conclusions:Our results indicate that ACE gene D allele is playing a role in the development of CAD and knowing the genotype of the patient will help manage the patient appropriately.
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