ABSTRACT
We investigated whether the insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene and serum ACE levels are associated with traditional risk factors of coronary artery disease (CAD). We enrolled 250 individuals without CAD and 750 individuals suffering from CAD who were angiographically diagnosed. Biochemical risk factors, the ACE (I/D) gene polymorphism, and ACE serum levels were compared. ACE genotypes were determined using real-time polymerase chain reaction. ACE serum levels were determined using an enzyme-linked immunosorbent assay. Lipid parameters were determined spectrophotometrically using an autoanalyzer. Compared to the control group, the CAD group showed significantly higher serum ACE levels (P < 0.001). The highest ACE levels were found in those with the DD genotype. Other genotypes also presented statistically significant differences. We observed a significant difference between the control and coronary patient groups regarding the levels of total cholesterol, triglyceride, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol (P < 0.05). ACE (I/D) genotypes and serum ACE levels may be associated with risk factors and the development of CAD.
Subject(s)
Coronary Artery Disease/genetics , INDEL Mutation , Peptidyl-Dipeptidase A/genetics , Alleles , Coronary Artery Disease/blood , Coronary Artery Disease/enzymology , Female , Humans , Lipids/blood , Male , Peptidyl-Dipeptidase A/blood , Polymorphism, Single Nucleotide , Risk FactorsABSTRACT
Celiac disease (CD) is a multifactorial, inflammatory small bowel disorder characterized by nutrient malabsorption resulting from mucosal damage, the latter induced by cereal products like barley, oat, and wheat. Oxidative stress has previously been reported to play an important role in the pathogenesis of CD. In the present study, we aimed to evaluate the frequency of polymorphisms that affects the structure of the enzymes superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), with levels being dependent on the amount of oxidative stress and whether or not there is an association with the mutations DQA1*0501, DQB1*0201, and DRB1*04 that are frequently reported for CD. SOD and GSH-Px polymorphisms were investigated by real-time quantitative polymerase chain reaction in 265 cases. Of the 117 cases that had at least one of DQA1*0501, DQB1*0201, or DRB1*04, 98 (83.75%) also had SOD enzyme polymorphisms and 68 (58.12%) also had GSH-Px polymorphisms. In conclusion, although the etiology of CD is not yet entirely clear, many mechanisms have been suggested. This study supports the notion that SOD and GSH-Px polymorphisms are involved in CD development, even though our findings were not statistically significant, and, furthermore, are influenced at various levels. SOD polymorphisms and activities were more frequently identified than those of GSH-Px.
Subject(s)
Celiac Disease/genetics , Glutathione Peroxidase/chemistry , Glutathione Peroxidase/genetics , Superoxide Dismutase/chemistry , Superoxide Dismutase/genetics , Adolescent , Adult , Celiac Disease/pathology , Child , Female , Genetic Association Studies , HLA-D Antigens/genetics , Humans , Male , Oxidative Stress , Polymorphism, Single Nucleotide , Young AdultABSTRACT
We analyzed distribution of HLA-B27 and CYP2D6*4 mutations in 249 patients from Tokat province in Turkey with symptoms of arthritis, sacroiliac, joint and back pain, using a LightCycler 480 II Real-Time PCR thermal cycler. The Genes-4U was applied for studying HLA-B27 mutation, and the Tib-Molbiol commercial kit was used to examine the CYP2D6*4 mutation. Among the 249 patients, 18.5% had the HLA-B27 mutation. The CYP2D6*4 mutation was found in 22.0% (six homozygotes). Ten patients had both mutations. These frequencies are similar to what has been reported from other populations.