Molecular Screening & Influence of Cyp2C9*2 Variant with HHC in CVD Patients

Abstract

Cardiovascular diseases are the number one cause of death globally. An estimated 17.3 million people died from CVDs in 2008, representing 30% of all global deaths. Different risk factors contribute to the development of CVDs, mainly high blood pressure, obesity, diabetes mellitus and physical inactivity. One of the risk factor is the elevated level of homocysteine in blood. Homocysteine accumulates in the body due to the improper working of biochemical transformation process, usually due to deficiency of an enzyme, MTHFR, caused by the mutation. Hyperhomocysteinemia (HHC) is a condition that leads to the development of many cardiovascular diseases due to its clot causing ability. For the metabolism of the drugs taken against cardiovascular diseases, CYP family works. One member of CYP2C family, CYP2C9, is responsible for metabolizing various anticoagulants (such as Warfarin), that are prescribed for thrombophilic condition in HHC patients. In current study it is hypothesized that metabolism by CYP2C9*2 variant of CYP2C9, may have association with elevated homocysteine level in cardiovascular patients. To analyze the association of CYP2C9*2 variant of CYP2C9 family with Hyperhomocysteinemia, DNA was extracted from blood samples. PCR, RFLP, was performed on selected HHC samples with AvaII restriction enzyme and analyzed on gel documentation system. Among the three genotypes, CC, CT and TT, only CC and CT were found in this study. . Calculated P value was 0.924 that was greater than standard P value (P = 0.05), indicating no significant association between CYP2C9*2 and Hyperhomocysteinemia. BMI was found to be a major risk factor associated with CVD’s (Mean BMI = 36.39). Allelic frequency of C was 0.86% and frequency of T allele was 0.13% in HHC patients. On the basis of significant results, we may say that in our selected population, no association of CYP2C9*2 variant with elevated homocysteine level in patients with cardiovascular diseases be existent. For further studies, any other variant of CYP2C9 may be analyzed for an association with elevated homocysteine.