Impacts of RETN genetic polymorphism on breast cancer development in Beni-Suef females, Egypt.

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.

Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications.

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.

Evaluation of stromal cell-derived factor-1ß Gene polymorphism G801A among Egyptian patients with type 2 diabetes mellitus.

Stromal cell derived factor - 1 (SDF-1) is expressed by bone marrow derived stromal cells and stromal tissues in multiple organs. SDF-1 possesses diverse physiological and biochemical functions concerning autoimmunity and inflammation. SDF-1 gene polymorphisms play various roles in immune related diseases. This study aimed to evaluate association of SDF-1ß G801A gene polymorphism and type 2 diabetes mellitus (T2DM) as regard prevalence and glycemic control. The study included hundred Egyptian subjects; 50 patients with T2DM recruited from the Internal Medicine Department, Beni-Suef University Hospital, and 50 age and sex matched healthy subjects. Participants were subjected to full clinical examination and routine laboratory investigations including fasting blood glucose, 2 hours post prandial blood glucose, serum creatinine, lipid profile and glycated hemoglobin (HbA1c). SDF-1ß G801A gene polymorphism was analyzed using polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP). The frequency of GG and AG genotypes was higher in patients compared to controls with no statistical significance. Higher frequency of homozygous GG genotype and G allele were observed among patients with poor glycemic control (HbA1c ≥ 8% ) compared to those with good glycemic control (HbA1c < 8%) (P = 0.001 and 0.018 respectively). In conclusion, this study suggested an association between SDF-1 ß gene polymorphism and type 2 diabetes mellitus in Egyptian patients. Further studies are needed to confirm our observations.