Hepatitis C virus (HCV) infection related complications including fibrosis, cirrhosis and hepatocellular carcinoma (HCC) are influenced by host genetic factors. Identification of emerging host genetic variations is of promising value. Disheveled EGL-10 and pleckstrin domain-containing 5 (DEPDC5) rs1012068 T/G gene polymorphism has been implicated in liver disease. This study aimed to assess DEPDC5 rs1012068 T/G gene polymorphism with disease progression and related complications among Egyptian patients with chronic HCV infection. Sixty chronic HCV-infected patients and 60 apparently healthy controls were recruited in this study. Patients were classified into 20 with liver fibrosis, 20 with liver cirrhosis and 20 with HCC; all recruited from Outpatients Clinic and Tropical Medicine Inpatient Department, Faculty of Medicine, Beni-Suef University Hospital. DEPDC5 rs1012068 T/G gene polymorphism was assayed by real time-polymerase chain reaction (RT-PCR) TaqMan allelic discrimination. DEPDC5 rs1012068 GG genotype and G allele variants showed statistically significant higher frequency among patients with liver fibrosis when compared to controls (OR (95% CI) 10.500 (2.086 – 52.851), P= 0.004 and 0.388 (0.155 – 0.971), P= 0.011), respectively. DEPDC5 rs1012068G allele variant showed statistically significant higher frequency among patients with liver fibrosis when compared to HCC patients (OR (95% CI) 3.316 (1.286 – 8.550), P= 0.012) and to both HCC and cirrhosis patients (OR (95% CI) 2.579 (1.187-5.645), P= 0.016). In conclusion, our results suggest that DEPDC5 rs1012068 G allele could be considered genetic risk allele for liver fibrosis and disease progression among Egyptian patients with chronic HCV infection.

Background: Trace elements perform a vital role in all stages of human physiology, as well as reproduction.Objective: This study aimed to assess seminal calcium (Ca) and magnesium (Mg) in infertile men associated with varicocele (Vx). Materials and methods:Overall, 50 men were divided into two groups: fertile men (n = 20) and infertile men who were scheduled for Vx surgical repair (n = 30). Exclusion criteria were as follows: azoospermia, smoking, leukocytospermia, and consumption of Ca and/or Mg supplements. All cases were subjected to history taking and clinical examination. Semen analysis and assessment of seminal Ca and Mg by the colorimetric method were carried out for all cases at the base point and 3 months postvaricocelectomy.Results: Generally, the mean seminal Ca and Mg levels demonstrated significant decreases in infertile men with Vx compared with the healthy fertile men linked to higher Vx grade as well as Vx bilaterality. These seminal decreases demonstrated significant increases after Vx surgical repair. Collectively, seminal Ca and Mg levels showed a significant positive correlation (r = 0.665, p= 0.001).

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This study aimed to assess the association between aryl hydrocarbon receptor (AhR) rs2066853 gene polymorphism with infertile oligoasthenoteratozoospermic (OAT) men and seminal oxidative stress (OS). A total of 170 Egyptian men were allocated according to their semen analysis into fertile normozoospermic controls (n = 50) and infertile OAT men (n = 120). They were subjected to history taking, clinical examination, semen analysis, estimation of seminal glutathione peroxidase (GPx), and malondialdehyde (MDA). AhR rs2066853 gene polymorphism was identified in the blood by PCR-RFLP. Comparing infertile OAT men with fertile controls, AhR rs2066853 genotypes showed decreased prevalence for wild homozygous genotype GG (35.8 vs 56%) and for heterozygous genotype GA (17.5 vs 30%) and an increased prevalence for homozygous genotype AA (46.7 vs 14%). Distribution of alleles of AhR rs2066853 among OAT men compared with fertile men showed decreased prevalence of G allele (44.6 vs 71%) and an increased prevalence of A allele (55.4 vs 29%). Seminal MDA demonstrated significant increase whereas seminal GPx demonstrated significant decrease in cases with AA and GA/AA genotypes compared to cases with GG genotype. It is concluded that there is a significant association between AhR rs2066853 genotype polymorphism with decreased sperm parameters as well as increased seminal oxidative stress in infertile OAT men.

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Breast cancer is the most common cancer among females with increasing incidence and death rates. Resistin is pro-inflammatory molecule which shares in diverse cellular signaling pathways. This study aimed to evaluate resistin and RETN rs3219175 gene polymorphism and their relevance to diagnostic susceptibility, prognostic value, and genetic risk among Egyptian female patients with breast cancer. Eighty female patients with breast cancer were recruited from the Oncology Department, Faculty of Medicine, Beni-Suef University. Breast cancer staging and grading were determined. Eighty age-matched normal females participated as controls. Quantitative determination of serum resistin was assayed by an enzyme-linked immunosorbent assay (ELISA). RETN rs3219175 gene polymorphism was determined by real time polymerase chain reaction (RT-PCR) TaqMan allelic discrimination assay. Serum resistin showed statistically significantly higher level among females with breast cancer when compared to controls (p <0.001). Resistin showed sensitivity of 80% and specificity of 67.5% at cut off value of 1.27 ng/mL for diagnosis of breast cancer (p =0.001). RETN rs3219175 gene polymorphism showed significantly higher frequency of AG, AA genotypes, and A allele among cases when compared to controls (p <0.001). No statistical difference was found in resistin level or RETN rs3219175 gene polymorphism regarding tumor characteristics including size, lymph nodes or distant metastasis. Resistin showed significantly higher level among carriers of AG followed by AA genotypes and among A allele (p <0.001). In conclusion, resistin could be proposed as a possible potential diagnostic marker and A allele of RETN rs3219175 gene might be suggested as a genetic risk allele among female patients with breast cancer.

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