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PURPOSE: The objective of this study was to evaluate the relationship between brain-derived neurotrophic factor (BDNF) gene (Val66Met, rs6265, G>A) polymorphism and breast cancer (BC) among females of Southern Pakistan. METHODS: This case-control study consisted of 300 females (BC cases [n = 100] and controls [n = 200]) with age range of 18 to 45 years. All participants were recruited during January to December 2014 and were screened for depression using Zung depression scale. Isolation of genomic DNA (gDNA) followed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was done. All statistical analysis was carried out on IBM-SPSS version 22 at P-value <.05. Hardy-Weinberg equilibrium (HWE), Pearson chi-square, and odds ratios (ORs) with 95% confidence interval (95% CI) were calculated. RESULTS: Genotype distribution of BDNF gene polymorphism lies in the goodness-of-fit model among controls. The statistical analyses reveal a significant association between genotype frequencies (χ2 = 12.709, P-value = .002) of BDNF and BC among cases and controls. The AA genotype (OR = 5.2, 95%CI = 0.632-42.804) increases the risk of having BC. CONCLUSIONS: Our results suggest that BDNF gene polymorphism may have an association with BC risk among Pakistani females. However, the present finding needs to be replicated with greater sample size with BC risk.
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INTRODUCTION: Polymerase Chain Reaction (PCR) and Immunohistochemistry (IHC) are two well-known techniques used for the diagnoses of genetic diseases, tumours and different pathogens. PCR basically amplify regions of DNA within a single molecule which may have etiologic significance, it is a method for in vitro amplification of specific DNA or RNA sequences, whereas IHC is used to verify tissue constituents (the antigens) with the utilization of specific antibodies that can be visualized through staining. AIM: To compare and analyse PCR and IHC for their sensitivity to detect Human Papillomavirus (HPV) in Oral Squamous Cell Carcinoma (OSCC). MATERIALS AND METHODS: This study was based on samples retrospectively collected from 47 patients with primary OSCC who were diagnosed and treated at The Aga Khan University Hospital, Karachi, Pakistan, during the period of January 2010 to December 2013. Inclusion criteria were complete clinicopathologic data, adequate clinical follow up and availability of sufficient paraffin- embedded tumour material. HPV general and type specific 16 and 18 were investigated by means of PCR. HPV immunoreactivity was further investigated by means of IHC. RESULTS: Among the 47 evaluated patients, 32 (68.1%) were male and 15 (31.9%) were female, PCR detected the presence of HPV in 32 (68.1%) patients while IHC showed no positive test results. p53 was positive in 32 (68.1%) patients and negative in 15 (31.9%). HPV type 16 being most prevalent showing positivity in 27 (57.4%) patients whereas, type 18 was positive in only 1 (2.1%) patient. CONCLUSION: We concluded that PCR is more sensitive and reliable when diagnosing and detecting HPV for OSCC rather than IHC as results from IHC were all negative and insignificant, hence PCR should be the first initial diagnostic test for detecting HPV due to its better sensitivity and successful detection of HPV.