Biomedical subjects

Afig Berdeli

Publications and source records attributed to Afig Berdeli.

26 records · Page 2Linked to original sources

PubMed2005

Association between the ACE I/D gene polymorphism and physical performance in a homogeneous non-elite cohort.

BACKGROUND: I/D polymorphism of the ACE gene may be associated with better endurance performance and a stronger response to exercise training. The aim of this study was to investigate the association between ACE gene polymorphism and athletic performance in a homogeneous cohort. METHODS: Eighty-eight male non-elite Caucasian Turkish athletes with similar training backgrounds for at least for 6 months were studied for ACE gene polymorphisms by PCR analysis. Performance on the 60-meter sprint and middle-distance running tests were evaluated. RESULTS: The distributions of the ACE I/D genotypes were 20.5%, 40.9%, and 38.6% for II, ID, and DD polymorphisms in the whole group (N = 88), respectively. The ACE DD genotype frequency was significantly higher in the superior group (56.7%) than in the poor (37.9%) and mediocre (20.7%) group in middle-distance running performance (chi2 = 11.778; p = 0.019). CONCLUSION: The ACE DD genotype may be related to better short-duration aerobic endurance performance. Larger homogeneous cohorts may help clarify the association between ACE I/D polymorphism and physical performance.

Alleles↗

PubMed2005

Renin-angiotensin system gene polymorphisms and premature coronary heart disease.

INTRODUCTION: Experimental and clinical studies demonstrated that the renin-angiotensin system (RAS) affects the pathogenesis of atherosclerosis and prognosis of coronary heart disease (CHD). The aim of this study was to investigate the genotype distribution and the allele frequencies of three RAS genes polymorphisms and their effects on premature CHD in a Turkish population. MATERIALS AND METHODS: One-hundred and fifteen Turkish patients with premature CHD and 128 controls were included into the study. Angiotensin-converting enzyme (ACE), angiotensin II type 1 (AT1) receptor and angiotensinogen (AGT) gene polymorphisms were analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: The patients group showed an increased frequency of the ACE D allele compared with controls (65% vs. 35%, p = 0.0001). There was a significant association between the DD genotype and premature CHD (ACE DD vs. ID and II; odds ratio [OR] = 2.82 [CI 95% 1.33 2.91, p = 0.002]). Also, we observed increased premature CHD risk associated with higher frequencies of the AGT MM genotype in patients when compared with controls (AGT MM vs. TT and MT, OR = 1.92 [CI 95% 1.11-3.33, p = 0.018]). We found a significant association between AT1-receptor AA genotype and decreased risk of premature CHD (AT1R AA vs. AC and CC, OR = 0.57[CI 95% 0.34-0.95, p = 0.03]). CONCLUSIONS: We demonstrated that increased premature CHD risk is associated with higher frequencies of the ACE DD and AGT MM genotypes. These findings indicate a synergistic contribution of ACE DD and AGT MM polymorphisms to the development of premature CHD. Also, our results suggest that family history, smoking, diabetes, hypertension, obesity and ACE DD genotype were independent risk factors for premature CHD.

Adult↗

PubMed2005

Effects of genetic polymorphisms of the renin-angiotensin system in children with nephrotic syndrome.

BACKGROUND: The renin-angiotensin system (RAS) has been considered to be responsible for the pathogenesis or progression of many diseases which may or may not be related to kidney. Genetic polymorphisms of the various components of the RAS have been associated with differences in the clinical course of several disease states in adults and children. OBJECTIVES: The purpose of our study was to investigate RAS gene polymorphisms in patients with steroid resistant primary focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome responding to steroid therapy. Furthermore, we aimed to investigate whether there was an association between polymorphic alleles and responses to steroid therapy, the degree of renal dysfunction, and prevalence of end-stage renal disease (ESRD). MATERIAL AND METHODS: One hundred and fifty-eight children with the diagnosis of nephrotic syndrome were recruited from the Nephrology unit in the Department of Paediatrics of Ege University. Forty-nine of them were classified as renal biopsy-proven FSGS and 102 patients were considered to have response to steroid treatment. Renal functional impairment was detected in 19 subjects with FSGS and end-stage renal insufficiency in 13 patients. The control group consisted of 287 healthy adult subjects. Angiotensin-converting enzyme (ACE), angiotensin II type 1 receptor (AT1R) and angiotensinogen (AGT) gene polymorphisms were determined by the polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Statistical significance was regarded as p<0.05. RESULTS: There were no statistically significant differences for the C allele of AT1R or the T allele of AGT genes between the children with nephrotic syndrome and control group, but on the other hand statistically significant differences were detected for D allele of ACE gene. There was no significant relationship detected between the D allele of ACE, the C allele of AT1R or the T allele of AGT genes and response to steroid therapy, extent of renal dysfunction and the progression to ESRD. However, there was a significant relationship between T allele of AGT gene and resistance to steroid treatment (OR; 4,837, 95% CI; 1,723-13,577, p=0.01), renal dysfunction (OR; 3,189, 95% CI; 0,999-10,182, p=0.041) and progression to ESRD (OR; 3,852, 95% CI; 1,057-14,040, p=0.03). CONCLUSION: In this study, the angiotensinogen -235T allele was found to be related with steroid resistance, renal dysfunction and progression of ESRD in nephrotic syndrome.

Biopsy↗

PubMed2004

Insulin-like growth factor attenuates apoptosis and mucosal damage in hypoxia/reoxygenation-induced intestinal injury.

OBJECTIVE: Necrotizing enterocolitis (NEC) is a potentially lethal disease among premature infants. The aim of the present study was to investigate whether hypoxia-reoxygenation (H/R)-induced intestinal injury was due to increased apoptosis of the intestinal mucosa in young mice and whether pre-treatment of the animals with recombinant human insulin-like growth factor-I (IGF-I), a known anti-apoptotic factor, could protect the intestinal cells from H/R-induced apoptosis or intestinal injury. STUDY DESIGN: Young mice were divided into three groups: group 1 mice (H/R) were hypoxia-reoxygenation; group 2 mice (H/R + IGF-I) were treated with recombinant human IGF-I by intraperitoneal injection (1 mug/g b.w. once daily) for 7 days, and group 3 mice served as control. Hypoxia was induced by placing young mice in a Plexiglas chamber consisting of 10% oxygen for 60 min. After hypoxia, the young mice were reoxygenated for 10 min with 100% oxygen. Intestinal generation of substances reactive to thiobarbituric acid (TBARS) and active caspase-3 were measured in H/R-induced intestinal injury. RESULTS: Increased numbers of apoptotic cells (apoptotic index) across the villi in young mice subjected to H/R were observed with the TUNEL reaction whereas few apoptotic cells existed in the control animals. In addition, H/R-induced intestinal damage in the H/R + IGF-I group was greatly attenuated, with necrosis limited partially to the mucosa. Tissue-active caspase-3 levels in the H/R group were found to be significantly higher when compared with that of the H/R + IGF-I group of mice and control. However, TBARS concentrations in the intestine were similar in H/R groups when compared to the intestine of control animals. CONCLUSION: The present study suggests that both necrosis and apoptosis, via mechanisms occurring due to oxygen-derived free radicals and activation of caspase-3, play a role in the pathogenesis of H/R-induced bowel injury. We also show that IGF-I protect intestinal mucosa from necrosis and apoptosis from intestinal H/R injury.

Animals↗

PubMed2004

Is ACE gene polymorphism a risk factor for renal scarring with low-grade reflux?

The possible relationship between the angiotensin-converting enzyme (ACE) gene insertion/deletion ( I/D) polymorphism and renal scarring secondary to vesicoureteral reflux (VUR) has recently attracted attention and the DD genotype was postulated to be a risk factor for renal scarring. However, available data represent conflicting results. The aim of this study was to investigate the ACE gene I/D polymorphism and the other known risk factors for renal scarring in children with low- and high-grade VUR. The study included 96 (67 females, 29 males) patients (mean age at diagnosis 3.7+/-3.3 years) with VUR that were assessed for ACE I/D gene polymorphism. ACE genotypes were determined as II, ID, and DD using the polymerase chain reaction. The control group consisted of 103 healthy children with the same ethnicity to find the distribution of ACE gene I/D polymorphism in the population. The frequency of renal scarring was 80.8% in the high-grade reflux group and 34.3% in the low-grade reflux group. There was no difference between groups with renal scarring and without scarring with respect to gender, family history of VUR, age at diagnosis of VUR, associated urological abnormalities, frequency of urinary tract infection episodes, and the occurrence of bilateral or unilateral VUR. Genotype DD was found to be a significant risk factor for renal scarring in the study group by multivariate regression analysis (odds ratio 3.79, P=0.011). It was not a risk factor in high-grade reflux patients (odds ratio 0.60, P=0.62). However, it was a risk factor in low-grade patients with respect to renal scarring (odds ratio 4.0, P=0.024). Although renal scarring is not common in low-grade reflux patients, there may be scarring in some patients. DD polymorphism of the ACE gene is a significant risk factor in low-grade reflux patients with renal scarring.

Child, Preschool↗

PubMed2004

Involvement of immunoglobulin FcgammaRIIA and FcgammaRIIIB gene polymorphisms in susceptibility to rheumatic fever.

OBJECTIVES: To assess the impact of the human FcgammaRIIA and FcgammaRIIIB gene polymorphisms on the risk of rheumatic fever (RF). DESIGNS AND METHODS: FcgammaRIIA-R/H-131 and FcgammaRIIIB-NA1/NA2 genotypes were determined using polymerase chain reaction in 66 RF cases and 117 healthy controls in this case control study. RESULTS: Compared with healthy controls, the RR genotype was enriched in the entire group of RF cases (odds ratio [OR] 4.98, 95% confidence interval [95% CI] 1.81-13.70). RF patients were more frequently HR heterozygotes rather than HH homozygotes (OR 3.09 vs. 0.11). The results of this study show that patients who have RF are more likely to have the RR and HR genotypes than control children. These probabilities show that RR is associated with the greatest risk for rheumatic fever and HR is associated with an intermediate risk. For the distribution of FcgammaRIIIB NA2 genotypes, a nonsignificant increase was found in RF patients (39.31% vs. 51.51%; OR 1.64, P = 0.1226). CONCLUSION: The FcgammaRIIA-R/H-131 polymorphism may be an important marker in determining predisposition to RF.

Adult↗

PubMed2004

Meconium enhances platelet-activating factor and tumor necrosis factor production by rat alveolar macrophages.

Meconium aspiration syndrome (MAS) frequently results in inactivation of surfactant, persistent pulmonary hypertension (PPHN) and respiratory failure among newborn infants. Inflammation and inflammatory mediators play an important role in MAS. Since alveolar macrophages are thought to be very important cells in the pathogenesis of various inflammatory diseases, we evaluated whether meconium could stimulate rat alveolar macrophages to generate platelet-activating factor (PAF) and tumor necrosis factor (TNF)-alpha in vitro. We also examined the response to A23187 (calcium ionophore), 1-0-Hexadecyl-2-acetyl-sn-glycero-3-phosphocholine (synthetic PAF) and dexamethasone on meconium-induced release of PAF and TNF-alpha. PAF and TNF-alpha concentrations from supernatant fluid were measured after high-performance liquid chromatography purification by specific radioimmunoassay, and TNF-alpha concentrations were determined by using an enzyme-linked immunosorbent assay. Our results showed that alveolar macrophages exposed to meconium could enhance PAF and TNF-alpha production in a dose (0.1, 1, 5 and 10%, P<0.01)-dependent way. In the presence of A23187, the capability of meconium to stimulate PAF production was further enhanced in the supernatant fluids. Furthermore, treatment with synthetic PAF significantly increased the generation of TNF-alpha in response to meconium. On the other hand, dexamethasone effectively inhibited both PAF and TNF-alpha production stimulated by 5% meconium (P<0.01, P<0.01; respectively). We suggest that alveolar macrophages and PAF, TNF-alpha play an important role in the pathogenesis of lung injury and severe complications in MAS. Furthermore, the protective effect of glucocorticoids in MAS could be due, at least in part, to a suppression of PAF and TNF-alpha generation.

Animals↗

PubMed2004

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

Mutations of NPHS2, ie, the gene coding for podocin, are associated with nephrotic syndrome (NS) in children, with a clinical phenotype characterized by variable age at onset (from 1 to 10 years) and steroid/cyclosporine resistance. The authors describe an infantile variant in 2 families (3 patients) from Turkey, characterized by homozygosity of a complex haplotype, in which 2 podocin mutations (P20L-R168H) are present in cis. It results from the insertion of a new mutation (R168H), only found in Turkey, on a more ancient haplotype containing the P20L mutation observed in the European population. All patients described had presented with NS within the first 6 months of life with strict resistance to drugs and a histologic background of focal segmental glomerulosclerosis. This is the first description of double homozygous mutations in an autosomal recessive renal disease reported in the literature. The association with infantile NS widens the panel of clinical presentation related to NPHS2 mutations.

Child↗