Role of matrix metalloproteinase 3 gene promoter polymorphism in chronic pancreatitis.

Aim To study the role of 5A/6A polymorphism of matrix metalloproteinase (MMP-3) and their levels in the pathogenesis of chronic pancreatitis (CP). Methods One hundred and twenty CP patients and an equal number of age and sex-matched healthy controls were included in the study. Genotypes were determined for 5A/6A allele of MMP-3 gene by allele specific PCR (AS-PCR). The serum MMP-3 levels were estimated using sandwich ELISA method. Results The distribution of the genotypes of the 5A/6A polymorphism in both control and study patients was similar (p=0.523). Within the disease group, patients with older age, early onset of the disease, and addictions such as smoking and alcohol consumption had higher levels as compared to those who did not have these features. Conclusion We conclude that functional polymorphism of MMP-3 (5A/6A) is not associated with CP. However, the higher levels within the disease group indicate its possible role in the disease process.

Helicobacter pylori infection in relation to gastric cancer progression.

Gastric cancer is a major cause of cancer death worldwide, especially in developing countries. The incidence of gastric cancer varies from country to country, probably as a result of genetic, epigenetic, and environmental factors. H. pylori infection is considered as a major risk factor in the development of gastric cancer. However, the scenario varies in Asian countries, exhibiting a higher rate of H. pylori infection and low incidence of gastric cancer, which could be attributed to strain-specific virulence factors and host genetic makeup. In this review, we discuss the various virulence factors expressed by this bacterium and their interaction with the host factors, to influence pathogenesis.

Genetic heterogeneity in duodenal ulceration.

Background: Duodenal ulcer (DU) is a multifactorial disorder with different etiological and pathogenetic mechanisms. Evidence for the role of genetic factors such as familial aggregation, twin studies, ABO blood groups, ABH nonsecretor status and hyperpepsinogenemia have been reported in DU. Genetic heterogeneity of cases with familial incidence will provide information regarding the association of qualitative and quantitative traits. Aim: Hence, the present study is envisaged at identifying the segregant and deviant groups based on parental phenotypes and their association with other quantitative markers. Materials AND Methods: 62 out of 462 endoscopically confirmed duodenal ulcer cases were considered for the analysis of genetic heterogeneity. This was resolved through the calculation of genetic risk estimates of sporadic cases in multiplex families based on different modes of inheritance and variation in associated genetic and biochemical markers. Results: Mean age at onset in simplex and multiplex cases was found to vary indicating the presence of genetic heterogeneity in the expression of the disease. Segregant and deviant groups were identified based on mortons probability risk estimates and examined for the possible association of qualitative and quantitative markers such as pepsinogen phenotype, serum and tissue pepsinogen levels, cathepsin E, malondialdehyde and ceruloplasmin levels. Conclusions: The study thus highlighted the presence of genetic heterogeneity in the expression of the disease. The risk factors associated with segregant type were normal serum and tissue pepsinogen levels increased malondialdehyde levels and association of AC phenotype while the deviant group was characterized by early age at onset with hyper pepsinogenemia and reduced cathepin E levels.

Malondialdehyde levels in patients with duodenal ulcer.

Malondialdehyde (MDA) is a stable product of lipid peroxidation of membrane lipids. In view of its role in membrane lipid damage in various inflammatory disorders, MDA levels were estimated in 83 duodenal ulcer patients and 48 controls. MDA levels were found to be significantly higher in duodenal ulcer patients as compared to controls (mean +/- SD 280.2 +/- 109.0 versus 216.5 +/- 81.4 nm/dL, p < 0.001). These increased levels of MDA may represent either the result of peroxidative damage in the disease process or a pathogenetic factor enhancing the risk for duodenal ulcer.