association of angiotensinogen converting enzyme [ACE] insertion/ deletion polymorphism with preeclamptic women in Alexandria - Egypt

Plasma and tissue ACE [angiotensin converting enzyme] activities are under genetic control. Increased ACE activity due to the deletion polymorphism of the ACE gene is associated with diseases that exhibit endothelial disturbance. Studies in various ethnic group have shown contradictory evidence on the association of ACE insertion/deletion [I/D] polymorphism with preeclampsia [PE]. In this study, we studied the potential association of I/D polymorphism of the ACE gene with PE. One hundred and seventeen preeclamptic women and 102 age-matched normotensive pregnant women were recruited from El Shatby Maternity Hospital Alexandria University. We performed genotyping for all the studied cases taking into account some wellknown contributing factors in PE such as maternal age, primiparity, gestational age and proteinuria. All these variables were significantly associated with PE.There was a shift in the genotype frequency distribution among preeclamptic women. The highest being for the II genotype, where the distribution of the II, ID and DD ACE genotypes was 51.3%, 26.5% and 22.2% in PE and 4.85%, 15.13% and 80.22% in normotensive subjects. The estimated frequencies of the insertion allele were 68.9% and 12.7% in PE and healthy controls respectively, while the frequencies of the deletion allele were 31.3% and 87.3% in PE and controls respectively. The present study showed that the ACE II genotype may have a predisposing effects on preeclampsia especially in younger women and/or in women with earlier gestational age .The ACE DD genotype didn't show any association with preeclampsia. The genetic susceptibility in preeclampsia needs more studies about the role of other candidate genes in addition to the ACE gene

Frequency of Arg[972]-IRS-1 variant among type I diabetic patients in El-Shatby pediatric Hospital, Alexandria, Egypt

Several polymorphisms have been identified in the amino acid sequence of human insulin receptor substrate-1 [IRS-1]. The most prevalent one is glycine change to arginine at the codon 972 that was hypothesized to play a role in pancreatic beta-cell stimulus-coupled-insulin secretion and survival. The frequency of this variant among type I diabetic patients, their available normal sibs, and control subjects recruited from EI-Shatby Pediatric Hospital, Alexandria University were studied. The results showed that the frequency of Arg[972] IRS-1 variant was 14% in diabetic patients, 9.1% in normal sibs, and 4% in normal control subjects. Data revealed that Odds ratio showed that carriers of Arg[972] IRS-1 variant had four times increased risk for developing the disease. In sibs, the risk is increased by three fold in carriers of this variant as compared to sibs with the wild allele. In spite being non-significant, the results of the present work suggest that Arg[972] IRS-1 variant could be considered as a potential risk factor for developing type I diabetes although it was statistically non-significant, which may be attributed to the small sample size or methods of selection of cases

Genetic determinants of essential hypertension

This study aimed at determining the role of genetic and environmental risk factors in the development of essential hypertension in Alexandria, Egypt. A case-control-study was conducted in the Main Health Insurance Hospital [MHI] Alexandria, Egypt, whereby cases previously diagnosed as hypertensive were included in the study. A hospital-based control group visiting the hospital for other unrelated conditions and randomly selected in the same day as cases was also included in the study. Both cases and controls were subjected to a semi-structured questionnaire including information concerning socio-demographic data and risk factors for hypertension. Only cases were subjected to segregation analysis. This study included 165 cases with history of essential hypertension and 196 controls. Multivariate analysis of potential risk factors showed that the following factors are independently associated with an increased risk of essential hypertension; age over 40 years, elevated BMI, workers, ever smoker and stress. Education less than 6 years remained in the model as an independent protective effect. Segregation analysis proved that the disease is not inherited as single gene mode of inheritance. On the other hand, the heritability for 1st 2nd and 3rd degree relative was 28.2%, 28.7% and 20.0%. These figures provide evidence to multifactorial mode of inheritance in essential hypertension