Articles written in Journal of Genetics

    • Upregulation of miR-222 in both Helicobacter pylori-infected and noninfected gastric cancer patients


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      Despite of promising improvements in treatment of gastric cancer, the mortality rate of this malignancy remains high. Chronic infection by Helicobacter pylori, interfering with intracellular signalling pathways, is the main risk factor for gastric cancer.Some evidence suggests that microRNAs (miRNA), the small noncoding RNA molecules, can play role as oncogenes or tumour suppressors in the cells. MiR-222 is one of the remarkable miRNAs undergoing upregulation in gastric cancer. However, the association between miR-222 upregulation and H. pylori infection in gastric cancer tissues remains unclear. The aim of this study was to analyse the expression level of miR-222 in gastric cancer tissues, evaluating the relationship between miR-222 expression level and H. pylori infection and also finding novel miR-222 targets based on in silico investigations. MiR-222 expression level in 200 patients including 112 H. pylori positive and 88 H. pylori negative was relatively measured using RT-qPCR and compared with 88 healthy samples. In silico enrichment analysis of miR-222 targets was performed byDAVID database to evaluate the possible role(s) of miR-222 in gastric tumourigenesis. We observed upregulated level of miR-222 in gastric cancer tissues compared with normal samples (P<0.05). However, no significant difference between miR-222 expression in H. pylori-positive and H. pylori-negative cases was observed. Our in silico analyses showed the possiblerole of p53, p27, PTEN and Elongin B in gastric cancer tumourigenesis. MiR-222 functions as an onco-miRNA and its overexpression can be involved in pathogenesis of gastric cancer, independent of H. pylori infection.

    • Association of a potential functional mir-520f rs75598818 G>A polymorphism with breast cancer


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      Some of the single-nucleotide polymorphisms in miRNA genes have been studied to date to find their association with the risk of breast cancer (BC). However, no study has been conducted to investigate the association of the mir-520f rs75598818G>A in BC. In the present study, rs75598818 association with BC in an Iranian population has been investigated, and an in silico analysis was performed to predict the function of rs75598818 polymorphism in BC. The rs75598818 was genotyped in 129 BC patients and 144 healthy women, using the PCR-RFLP method. The frequency of alleles and genotypes were considered to find the associations between rs75598818 alleles/genotypes, and BC risk and pathological characteristics of the patients. Statistical analysis showed that the rs75598818 GA genotype was significantly associated with BC (GA versus GG, OR=0.50, 95% CI: 0.25–0.98, P =0.041), highstage BC (stage III/IV versus I/II, GA versus GG, OR=0.27, 95% CI: 0.09–0.81, P =0.015), and HER-2 positive status (GA versus GG, OR=19.00, 95% CI: 4.64–77.82, P <0.001). Notably, the rs75598818 GA genotype has a negative association pattern since it reduces the risk of BC and high stage BC. Conversely, it increases the risk of HER-2 positivity. Computational results suggested that the rs75598818 polymorphism affects the stability of mir-520f stem-loop and as a result miR-520f-3p production that is a potential tumour suppressor. A contribution of the mir-520f rs75598818 polymorphism to BC had been unexplored before. In the present study, we performed an association study and a bioinformatics approach to evaluate this polymorphism in BC. However, further functional experiments and large-scale association studies with various ethnicities are required to elaborate our findings.

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