Background/aimUrothelial bladder cancer arises from the accumulation of multiple epigenetic and genetic changes. We aimed to investigate the specificity and sensitivity of gene-specific promoter methylation of CDH1 and p14ARF genes in the early diagnosis of bladder cancer and compare those with other diagnostic tests in our population.Patients and methodsIn the current study, 65 patients with urothelial bladder cancer and 35 controls without any history of cancer were recruited. Methylation profiles of CDH1 and p14ARF genes from tumor and urine samples were determined by methylation-specific polymerase chain reaction method.ResultsMethylation of CDH1 and p14ARF genes in tumor samples was 95.4% and 78.5%, respectively. The methylation frequencies were found to be 68.8% for CDH1 gene and 72.9% for p14ARF gene in urine samples. Sensitivities of CDH1, p14ARF and urine cytology were found to be 67.4%, 72.1% and 34.9%, respectively, while their specificities were 93.9%, 63.6% and 93.9%, respectively.ConclusionAberrant promoter methylation of CDH1 and p14ARF genes can be used to detect urothelial bladder cancer. In low-grade tumors, when compared with urine cytology, combined methylation analysis of CDH1 and p14ARF genes may not increase the sensitivity to identify malignant cells in urine samples.

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Aim: To investigate the association of the heme oxygenase-1 (HMOX1) gene polymorphism rs2071746 and chronic pancreatitis in the Azerbaijani population.Methods: From a period of 2014–2019, 70 patients with different types of chronic pancreatitis and 90 apparently healthy volunteers were observed. Of them, 55 subjects were consuming alcohol at least 3–4 times a week, with an average daily dose of >80 g/L, and 35 subjects were not consuming alcohol. The venous blood samples were collected from the control subjects and patients with pancreatitis; DNA was extracted and analyzed by polymerase chain reaction–restriction fragment length polymorphism.Results: The A allele in the homozygous form (A/A genotype) was found to be more common in patients with chronic pancreatitis (42.9%) than in the control group (16.6%). Thus, the A allele in the homozygous form (A/A genotype) may be associated with the development of chronic pancreatitis (odd ratio [OR] = 3.75; 95% confidence interval [CI] 1.81–7.77; p = 0.000). Furthermore, a statistical correlation between the A allele of the 495 A>T polymorphism (rs2071746) and an increased risk of the disease was observed. (p = 0.02, OR = 1.73; 95% CI 1.09–2.74). The heterozygous form of the A allele (A/T genotype; OR = 0.27; 95% CI = 0.13–0.56) and the T allele of the HMOX1 −495 A>T (rs2071746) polymorphism (OR = 0.53; 95% CI 0.32–0.89) reduced the risk of developing chronic alcoholic pancreatitis (p = 0.000 and p = 0.017, respectively).Conclusion: The identification of genetic association of the various types of chronic pancreatitis will encourage further research on HMOX1, drug development, or the use of hemin in clinical practice.