Adiponectin single nucleotide polymorphism [+276G/T] and its possible relation to adiponectin level in Egyptian patients with coronary artery disease

Increasing interest has been directed toward the role of the adiponectin gene polymorphism in the human genome and its implication in the pathogenesis of coronary artery disease. The present study was investigating the association between the single nucleotide polymorphism +276 G/T of the adiponectin gene with serum adiponectin level in patients with coronary artery disease [CAD]. In this study 100 healthy controls and 100 Egyptian patients with coronary artery disease of both genders presented to the Cardiology Department of Suez Canal University Hospital were investigated. All subjects were genotyped for +276 G/T polymorphism of adiponectin gene. Lipid profile, fasting blood glucose were measured. Adiponectin and high sensitivity C-reactive protein levels were determined by ELISA technique. Polymerase chain reaction based on restriction fragment length polymorphism [PCR-RFLP] was used to determine the genotypes of the studied population. The lowest serum adiponectin value was observed in patients with CAD compared with control group. The T allele of SNP +276 G/T in the adiponectin gene was found to be associated with CAD [odd ratio 2.23; 95% CI: 1.44-3.45; P= 0.001]. The significant association of the T allele [GT+TT] of this SNP with loweradiponectin level and higher hsCRP levels was confirmed in the study [p= 0.003 and 0.006 respectively]. Our results concluded that, +276 G/T SNP in the adiponectin gene is associated with CAD. Furthermore, carriers of the at-risk T allele had lower serum adiponectin level and higher serum hsCRP, causing in turn an increased risk to develop CAD

Patterns of thrombospondin genes polymorphisms in acute myocardial infarction patients in Ismailia City

Thrombospondin [TSP] 2 and 4 are multidomain calcium-binding extracellular glycoproteins which play a role in platelet aggregation and inflammatory response. TSP-2 has chemotactic and mitogenic activities for vascular smooth muscle cells while TSP-4 mRNA is expressed by endothelial and smooth muscle cells in vascular wall, and brain endothelial cells produce the protein both in vivo and in cell culture, localization consistent with its pro-atherogenic effects. These common functions may be central to the roles of the thrombospondins in coronary artery disease and myocardial infarction [MI]. In the present study, the association of the TSP-2[3949 T-+G, rs8089] and TSP-4 [Ala387Pro 1186 G-+C, rs866389] gene variations and MI among Egyptian patients living in Ismailia city has been examined. Both rs8089 and rs 1866389 were studied in 50 acute MI patients and 50 controls using Real-Time polymerase chain reaction. The prevalence of TSP-2 and TSP-4 alleles was not different in MI patients compared to controls [P> 0.05]. Although the minor allele homozygotes [GG] of TSP-2 seems to confer reduced risk of MI [OR: 0.42 95% CI=0.095-1.89] this was not statistically significant [P> 0.05]. The distribution of different TSP-4 genotypes did not differ between MI patients and controls [P>0.05]. Total cholesterol was statistically significantly higher [P=Q.Q2] in carriers of minor allele [C] of TSP4 [GC+CC]. Although, both polymorphisms showed no statistically significant difference in MI patients regarding all other measured conventional risk factors. However, the frequency of TTGC haplotype is statistically significantly higher in MI patients [24%] than in controls [6%] [P value=0.0226]. Our data suggests that although association analysis with MI did not reach significance, an at-risk haplotype of common variants located in THBS2 and THBS4 may be part of the genetic determinants for MI in the Egyptian population living in Ismailia city

Effect alpha globlin gene deletion and gamma globin gene -158 [C/T] polymorphism in beta-thalassemic patients

The beta-thalassemias [beta- thalassemias] are among the most common autosomal recessive disorders. They have a remarkably high frequency in the Mediterranean region and represent one of the most common genetic diseases in Egypt. In this study, the spectrum of beta-thalassemia mutations and genotype-to-phenotype correlations were defined in 32 beta- thalassemic patients [beta- thlassemias major and intermedia] with varying disease severity in two cities of the Suez Canal region. Ten different mutations were identified and the most frequent ones were: IVSI-6 [T-C] [37.5%], IVSI-110 [G-A] [34.4%] and both IVSI-1 [G-A], IVSII-745 [C-G] and -102 [C-G] [12.5% each]. There was a wide spectrum of phenotypic severity in all patients. We studied the Xmnl polymorphism [C/T] in gamma- globin gene position -158 of beta- thalassemia as a modulating factor of the disease severity. Presence of the polymorphism was found in two patients and this was not sufficient to explain the diversity of the phenotype encountered. Co-inheritance of alpha thalassaemia as a modulating factor was not evident in our patients. In conclusion, we have been unable to find a molecular basis for the benign clinical course in all our patients. Other genetic or acquired factors must be hypothesized which ameliorate the clinical condition