Polymorphism of ACE gene as the genetic predisposition of coronary artery disease in Eastern India.

AIM: A case control study was designed to assess whether the prevalence of ACE gene polymorphism has any role in the development of CAD. METHODS: The study included unrelated 217 cases with CAD and 255 healthy controls. PCR was done using primers followed by agarose gel electrophoresis for study of different ACE gene polymorphisms. Multiple logistic regression analysis was carried out to find association between studied genotypes and lifestyle as well as biochemical risk factors. RESULTS: Both DD [OR: 2.16; 95%CI: (60.60-67.40)] and ID [OR: 1.48; 95%CI: (93.28-97.72)] genotypes of the ACE gene showed significant associations in the development of CAD. Coexistence of diabetes and hypertension found to be risk modifier of the disease. Tobacco intake in various forms elevates the risk of the disease among the cases with risk genotypes. CONCLUSION: ID and DD genotypes of ACE gene came out to be predisposing factors for the CAD cases in our study population.

Polymorphisms of methylenetetrahydrofolate reductase gene as the genetic predispositions of coronary artery diseases in eastern India.

BACKGROUND: Gene-environment interaction is an important aspect in the development of coronary artery disease (CAD). The mutation (677C-T) of methylenetetrahydrofolate reductase (MTHFR) gene results in a decrease of the enzyme activity that leads to mild hyperhomocysteinemia. Elevated plasma level of homocysteine has been recognized as an independent risk factor for cardiovascular disease. A case-control study was designed to assess whether the prevalence of some MTHFR gene polymorphisms have any role in the development of CAD. MATERIALS AND METHODS: The study included unrelated 217 cases with CAD and 255 healthy controls. DNA was extracted from peripheral blood. MTHFR genotypes were identified by seeing the presence or absence of 677C→T mutation obtained by PCR followed by Hinf1 restriction digestion. Multiple logistic regression analysis was carried out to find association between studied genotypes and lifestyle as well as biochemical risk factors. RESULTS: The T allele was found to be associated with the disease. Significant associations were found with smoking, hypertension, diabetes, and family history of CAD. CONCLUSION: The results indicate that MTHFR 677C-T polymorphism has significant association with CADs in the population of eastern India.

Polymorphisms of CYP1A1, GSTM1 and GSTT1 Loci as the Genetic Predispositions of Oral Cancers and Other Oral Pathologies: Tobacco and Alcohol as Risk Modifiers.

Polycyclic aromatic hydrocarbons of tobacco require activation by phase I enzymes, such as cytochrome-P4501A1 (CYP1A1) to become an ultimate carcinogen, which are subjected to detoxification by phase II enzymes, especially glutathione S-transferases (GSTs). A study was designed to find whether genetic predisposition are risk modifiers of oral pathologies. The study included 102 cases with Oral Cancers (OCs), 68 cases with nonmalignant pathologies, 100 cases as control group. GSTM1 null genotype was associated with increased risk of OCs but not with benign pathologies. Deleted GSTT1 was associated with all pathologies. Both m1m2 and m2m2 polymorphisms of CYP1A1 were associated with oral pathologies.

Cytogenetic monitoring in human oral cancers and other oral pathology: the micronucleus test in exfoliated buccal cells.

Oral cancer is a lifestyle-related cancer, with tobacco as a primary factor. Progression of oral cancer develops over several years from the stage of leukoplakia, erythroplakia, etc. A micronucleus test was applied to oral mucosal cells, considering them as the target site for carcinogens and cytogenetic damage. The test has been established as a reliable biomarker for differential prevalence of MN indices among oral cancers, pre-cancers, non-malignant oral pathologies, and healthy controls for the first time. Buccal scrapings were collected from 63 patients with cancer and pre-cancerous lesions, 42 with non-malignant oral problems, and 100 healthy controls. The analysis revealed that MN frequencies in cancer and pre-cancerous cases were 4-fold elevated (p < 0.001) and 3.87-fold (p < 0.002) elevated for other non-malignant pathologies. Significant associations between use of tobacco in various forms and development of oral pathologies are also established. The relative cancer risk for smoking healthy controls with a definite MN frequency was also found to be significant. The results indicate the validity of the MN test as a cytogenetic marker for the development of several oral pathologies.