Introduction: Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by the incapability of pancreas to increase insulin secretion to compensate for insulin resistance in the peripheral tissues. T2DM is a multifactorial disease including several environmental factors with the presence of genetic predisposition. The transcription factor 7-like-2 gene (TCF7L2) rs7903146 (C/T) polymorphism is one of the most susceptible genes to T2DM discovered to date, with contribution to the disease through the Wnt/β-catenin signaling pathway affecting pancreatic islet development, expression of several genes involved in insulin granules exocytosis, and the incretin glucagon-like peptide 1 (GLP-1) gene. Then, TCF7L2 gene seems to affect diabetes susceptibility through B-cell dysfunction that is why we studied its association with T2DM in particular. Objectives: To investigate the potential association of the transcription factor 7-like-2 (TCF7L2) rs7903146 (C/T) gene polymorphism in patients with T2DM. Methods: A case-control study conducted on 70 T2DM patients recruited from the endocrinology clinic at Ain Shams University Hospitals, and 30 non-diabetic healthy controls age- and sex-matched with the patients. All subjects underwent full history taking; thorough clinical examination; routine laboratory investigations including hemoglobin A1c, total cholesterol, triglycerides, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol; and determination of TCF7L2 gene polymorphism by qRT-PCR. Results: The minor T allele of the rs7903146(C/T) SNP was associated with high risk of development of T2DM with an OR of 1.35 (95% CI: 0.68–2.6) and the heterozygous genotype (CT) with an OR 1.16 (95% CI: 0.49–2.7); however, they were statistically insignificant (p value >0.05). Conclusion: Our study did not confirm the presence of significant association between the TCF7L2 rs7903146(C/T) polymorphism and T2DM; however, it pointed out the possibility of presence of high risk of development of T2DM in patients with TT genotype. Further studies with higher sample size are needed to clarify the association.

Background: Insulin resistance (IR) is frequently associated with chronic liver disease. There has been an increased interest in betatrophin protein and its involvement in the compensatory response to IR. We aimed to investigate the correlation of serum betatrophin levels with disease severity and the emergence of IR in cirrhotic patients. This study included 27 cirrhotic patients and 30 healthy participants who served as a control group. IR was assessed by the Homeostasis Model Assessment (HOMA-IR). Serum insulin and betatrophin levels were measured using Enzyme-Linked Immunosorbent Assay (ELISA). Results: IR was existing in 74% of cirrhotic patients (p < 0.001). Subjects with IR had higher serum betatrophin levels than those without IR (p = 0.04). Serum betatrophin levels were significantly higher in cirrhotic patients than controls (p < 0.001). In addition, Child-Pugh class C patients had higher serum betatrophin levels than those with Child-Pugh class B cirrhosis (p = 0.01). Moreover, the highest serum betatrophin levels were detected in patients with tense ascites followed by those with moderate and mild ascites (p = 0.01). In the cirrhosis group, serum betatrophin levels correlated positively with fasting blood glucose levels (p < 0.001), fasting insulin levels (p = 0.006), HOMA-IR (p = 0.006), Child-Pugh score (p = 0.023), MELD score (p < 0.001), and INR (p = 0.005), and correlated negatively with platelets count (p = 0.01). Conclusion: Cirrhotic patients have higher serum betatrophin levels; moreover, these levels are positively correlated with disease severity as well as the emergence of insulin resistance.

Background Chronic obstructive pulmonary disease (COPD) is one of the most important causes of morbidity and mortality worldwide, characterized by persistent and progressive airflow limitations. The etiology seems to be an interaction between genetic and environmental factors. Objectives We aim in this present study to evaluate the role of Cytochrome P450 1A1 (CYP1A1 MspI) (3801 T/C) gene polymorphism in the development of Chronic Obstructive Pulmonary Disease ( COPD) by PCR-RFLP. Subjects and Methods Our study was performed on 50 subjects ( 35 COPD patients & 15 control ). Pulmonary function test was performed for patient group,DNA extraction was done and polymorphism was assayed for all participants by polymerase chain reaction-restriction fraction length polymorphism ( PCR-RFLP). Results We found that smoking rate among COPD patients was significantly higher than the control group ( P value = 0.003). The genotypic distribution of the single nucleotide polymorphisms (SNP) 3801 T/C did not differ significantly between patients and healthy controls (P value = 0.78).As regards disease severity , the genotype distribution was found to be significantly different between GOLD 1&2 and Gold 3&4 groups. Combined TC +CC alleles was found in 6 patients ( 100%) of Gold 3&4 ( P value&lt;0.001) Conclusion Our study demonstrated that there is no relation between CYP1A1 gene polymorphism and development of COPD.It shows significant relation between COPD development and smoking, it also shows significant relation between MSPI gene polymorphism and disease severity regarding Gold staging and decline in lung function.

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Background Type 2 diabetes mellitus (T2DM) is a heterogeneous group of metabolic disorders characterized by the incapability of pancreatic beta cells to increase insulin secretion to compensate for insulin resistance in the peripheral tissues. T2DM is a multi-factorial disease including several environmental factors with the presence of genetic predisposition. The transcription factor 7-like-2 gene (TCF7L2) rs7903146 (C/T) polymorphism is one of the most susceptible genes to T2DM discovered to date, with contribution to the disease through the Wnt/β –catenin signaling pathway affecting pancreatic islet development, expression of several genes involved in insulin granules exocytosis and the incretin glucagon-like peptide 1 (GLP-1) gene. Aim of the Work In this study we aimed to investigate the potential association of the transcription factor 7-like-2 (TCF7L2) rs7903146 (C/T) gene polymorphism in patients with type 2 diabetes mellitus. Patients and Methods The study was a case- control study conducted on 70 T2DM patients recruited from the endocrinology clinic at Ain Shams University Hospitals, and 30 non diabetic healthy controls matched with the patients in age and sex. All subjects underwent full history taking, thorough clinical examination, routine laboratory investigations including haemoglobin A1c (HbA1c), lipid profile; total cholesterol (TC), triglycerides (TG), high density lipoprotein-cholesterol (HDL-C) and low density lipoprotein-cholesterol (LDL-C) and determination of TCF7L2 gene polymorphism by real-time quantitative polymerase chain reaction (RT-PCR). Results The minor T allele of the rs7903146(C/T) SNP was associated with high risk of development of T2DM with an OR of 1.35 (95% CI: 0.68-2.6), the heterozygous genotype (CT) with an OR 1.16 (95% CI: 0.49-2.7) and the homozygous mutant genotype (TT) with OR of 3.16 (95% CI: 0.15-6.31), however, they were statistically insignificant (p-value &gt;0.05). Conclusion Our study did not confirm the presence of significant association between the TCF7L2 rs7903146(C/T) polymorphism and T2DM, however, it pointed to the possibility of presence of high risk of development of T2DM in patients with TT genotype. Further studies with higher sample size are needed to clarify the association.