ABSTRACT
Introduction:Aberrant DNAmethylation patterns in serum DNAmight be used as a biomarker for the early diagnosis and management of cancer patients. The aim of present study was to evaluate DNAmethylation of RASSF1Aand CDH1 in circulating cell free DNA(cfDNA) from serum and paired tissue DNAsamples of breast cancer patients. Material and methods: Methylation-specific PCR was used to assess the methylation status of the two genes in serum and paired tissue sample DNAof 50 breast cancer patients. Biochemical parameters were assessed using an electrochemiluminescence analyzer. Results: Significant correlation found between methylation status of RASSF1A and CDH1 in serum and paired tissue samples of patients. Among clinicopathological findings, CDH1 methylation showed significant association with advance staging and tumor and methylation of RASSF1A exhibited significant association with progesterone receptor and estrogen receptor status in both serum and paired tissue. Vitamins levels were significantly high in cases compared to control group. High folic acid levels were significantly associated with the RASSF1Amethylation. Conclusions: These findings suggest that methylation of cfDNAmay be important in the early detection of breast cancer.
ABSTRACT
Background: Cardiovascular disease is rising day by day due to having high fat diet and due to genetic alterations. Materials & Methods: Study included 70 CVD patients and their peripheral blood samples were collected for genotyping by venipuncture under aseptic condition in EDTA vials (2ml) as well as in serum vials (3ml) for biochemical parameters. Genomic DNA extraction was done by phenol chloroform method from blood samples collected in EDTA vials from cases as well as controls for genotype study. Results: The difference of genotype between cases and controls was found to be significant (p=0.0003). Study observed that high percentage of GA 29 (41.4%) and AA 8 (11.4%) genotype was found in patients compared to controls GA 10 (20%) and AA 0 (0%) while lower GG 33 (47.2%) genotype in patients compared to control GG 40 (80%) genotype. Compared to the GG genotype, the OR 3.51 (1.49-8.25) and 20.55 (1.14-369.6) for the heterozygous GA and homozygous AA genotypes were estimated, suggesting a possible dominant effect of Apo B polymorphism on CVD risk. In smokers, compared to the GG genotype, the OR 2.19 (0.69-6.88) and 1.71 (0.29-9.87) for the heterozygous GA and homozygous AA genotypes. In alcoholism, compared to the GG genotype, the OR 2.66 (0.93-7.57) and 8.4 (0.92-76.19) for the heterozygous GA and homozygous AA genotypes. Patients with mutant homozygous AA, heterozygous GA genotypes showed 123.3+14.34 (mg/dl) and 76.92+24.09 Apo B level in CVD patients compared to wild type GG homozygous genotypes were 70.82+17.12. Conclusion: It was observed that Apo B gene polymorphism and smoking behaviour found to be associated with increased risk of CVD in Indian population.