Evaluation of a single nucleotide polymorphism (SNP) and single nucleotide mutation in cancer patients and other diseases is crucial for genotypic characterization in order to select therapy and genetic counseling. The study aim is to develop and optimization for the detection of miR-146a gene rs2910164 C/G polymorphism in breast cancer. Tetra-primer Amplification Refractory Mutation System (T-ARMS) PCR was applied on 60 individuals to determine the genotype and allele frequencies. Genotype frequencies of miR-146a gene rs2910164 C/G polymorphism were homozygous CC 65%; heterozygous CG 6.65%; homozygous GG 28.35%; allele C and G frequencies were 68.5% and 31.5% respectively. These were in Hardy-Weinberg's equilibrium; p=0.18.Our study provides a simple rapid and a cost-effective T-ARMS-PCR molecular technique that could be used for the detection allele specific DNA polymorphisms and mutations in certain diseases and normal population at large scale.

Objective: To evaluate the association of miR-196a rs11614913 C/T genetic variation and its target gene annexin A1 mRNA expression with breast cancer risk in Pakistani female ethnicities. Methods: This case control study, conducted from March 2017 to November 2018 included 295 breast cancer patients, 295 controls of three Pakistani ethnicities and archived 100 samples of cohort group for genotyping and expression profiling. Genotyping of miR-196a (rs11614913 C/T) was done by ARMS PCR technique. Annexin-A1 (ANXA1) mRNA expression was measured with qRT-PCR and detection of protein expression of ANXA1 was done by immunohistochemistry. Results: CC homozygous genotype of miR-196a rs11614913 was present in 81.4% of cases and 73.9% controls. C/T polymorphism was found to be significantly associated with decrease risk of breast cancer (OR=0.25 (0.11- 0.58, p <0.05). Similar trend was seen with the minor T allele (OR=0.55 (0.39-0.77, p <0.05, and both dominant and recessive models (OR=0.64; p=0.02 and OR=0.26, p=0.00). In the KPK ethnic group significant decrease association with breast cancer risk was observed (OR= 0.22 (0.09-0.53, p < 0.05). Immunohistochemical staining showed loss of ANXA1 protein expression in 72 samples, and significant association was observed with pathological type p=0. 00 and triple negative receptor status p=0.03 and with genotypes of miR-196a p=0.00. Increase relative expression of 2.81± .88 by qPCR analysis of ANXA1 mRNA was noted with TT genotype. Conclusions: Our results demonstrate that miR-196a rs11614913 C/T polymorphism is associated with a decreased risk and loss of protein expression in breast cancer in the Pakistani population. doi: https://doi.org/10.12669/pjms.35.6.1322 How to cite this:Rahim A, Afzal M, Naveed AK. Genetic polymorphism of miRNA-196a and its target gene annexin-A1 expression based on ethnicity in Pakistani female breast cancer patients. Pak J Med Sci. 2019;35(6):1598-1604. doi: https://doi.org/10.12669/pjms.35.6.1322 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Abstract Objective: To assess the association of miR-146a and its target protein RhoA expression levels in breast cancer. Methods: The case-control study was conducted at Riphah International University, Islamabad, Pakistan, from March 2017 to November 2018, and comprised confirmed breast cancer cases and controls who were matched for age and ethnicity. Genotyping and expression profiling of archived samples was performed. Data was analysed using SPSS 22.. Results: Of the 590 subjects, 295(50%) each were cases and controls. Among the cases, there were 195(66%) Punjabis, 59(20%) Pathans and 41(14%) Kashmiris. The corresponding numbers among the controls were 198(67%), 58(19.7%) and 39(13.2%). The association between genotypes of the cases and controls was significant (p<0.05). Strong association was seen in dominant, recessive and allelic models (p=0.05). In Punjabi group the association was (p<0.00) significant, but this association was not significant in Kashmiri and Pathan groups (p>0.05). No association was found with the receptor status and miR-146a polymorphism. Conclusion: The miR-146a gene polymorphism rs2910164 G/C was found to have increased susceptibility to breast cancer at genotype and allelic levels. Key Words: Single nucleotide polymorphism, Breast cancer, miR-146a, RhoA.

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Objectives: To compare the improvement in renal function tests (RFTs) of type 2 diabetic patients who were taking glimeperide alone and this drug in combination with piogliatzone and pioglitazone alone. Data source: Data was analyzed using ANOVA. P < 0.05 was taken as significant. Study Design: Randomized prospective study. Setting: This study was conducted in the diabetic clinic of Fauji Foundation hospital Rawalpindi and the tests were analyzed in the Biochemistry Lab of Islamic International Medical College Rawalpindi. Duration of study: 12 weeks. Materials & Methods: Blood glucose levels were determined by glucose oxidase method (globe marketing GD Italy), HbA1c by Microlab 200, urea/creatinine /uric acid by Selectra E & micro albumin by Spin colour. Results: No significant differences were observed for the variables of hemoglobin A1c, uric acid and urinary albumin P >0.05. Significant decreases were observed in the levels of fasting plasma glucose, urea and creatinine P< 0.05. Conclusions: In patients with type 2 diabetes pioglitazone and the combinations of glimepiride with pioglitazone produced significant improvements in measures of glycemic control and RFTs.