Browsing by Subject "Polymorphism, Restriction Fragment Length"

Now showing 1 - 5 of 5
  • No Thumbnail Available
    Item
    Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population
    (2005) Berdeli A.; Sekuri C.; Sirri Cam F.; Ercan E.; Sagcan A.; Tengiz I.; Eser E.; Akin M.
    The renin-angiotensin system (RAS) and endothelial nitric oxide (NO) affect the pathogenesis of atherosclerosis and prognosis of coronary artery disease (CAD). Previous epidemiologic data suggested that genetic factors are more likely to affect young rather than old people. Our objective was to investigate the association between the polymorphisms of eNOS (Glu298Asp) and the RAS genes and premature CAD in a Turkish population. A total of 115 Turkish patients with premature CAD and 83 controls were included in the study. ACE I/D, AT1R A/C, AGT T/M and eNOS Glu298Asp gene polymorphisms were analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). It was found that increased premature CAD risk is associated with higher frequencies of the ACE DD [OR: 2.600 (CI 95% 1.395-4.847, p=0.002)], AGT MM [OR=2.407 (CI 95% 1.267-4.573, p=0.007)] and eNOS 894TT [OR=17.000 (CI 95% 3.952-73.125, p<0.001)] genotypes. Carriers of ACE DD+eNOS 894TT (p=0.002), AGT MM+eNOS 894TT (p=0.001), AT1R AA+eNOS 894TT and AT1R non-AA+eNOS 894TT (p=0.002) genotypes were significantly associated with the risk of premature CAD. This study indicates a synergistic contribution of RAS genes (ACE I/D, AGT T/M, AT1R T/C) and eNOS Glu298Asp polymorphisms to the development of the premature CAD. © 2004 Elsevier B.V. All rights reserved.
  • No Thumbnail Available
    Item
    Association of platelet-activating factor acetylhydrolase gene polymorphism with premature coronary artery disease in Turkish patients
    (2006) Şekuri C.; Çam F.S.; Tengiz I.; Ercan E.; Bayturan Ö.; Berdeli A.
    Objective: Platelet-activating factor (PAF) is a phospholipid with multiple actions that is involved in inflammatory diseases as well as in atherogenesis. It is inactivated by a plasma enzyme, PAF-acetylhydrolase (PAF-AH). Deficiency of this enzyme in plasma is caused by a missense mutation in the gene (G994T). The aim of this study was to investigate association of this mutation with premature coronary artery disease (CAD). Methods: One hundred and fifteen unrelated Turkish patients with a diagnosis of premature CAD and 128 unrelated healthy subjects were enrolled in this study. Genotyping was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results: The prevalence of the G994T mutation in the patients was 2.60 % (heterozygote), and 0 % in the controls. There was no significant difference in allele frequency and genotype distribution among the study groups. Conclusion: The G9943T mutation in the plasma PAF acetylhydrola se gene is not associated with premature CAD in Turkish subjects.
  • No Thumbnail Available
    Item
    Lack of association between leptin levels and leptin gene polymorphism in obese women
    (Informa Healthcare, 2014) Okudan N.; Gökbel H.; Acar H.; Uzunoʇlu S.; Belviranli M.
    The aim of the present study was to evaluate the relationship between oligopolymorphism in the 25th codon of leptin gene and obesity. Eighty-seven obese women and 75 healthy women were constituted obese and control groups. Body fat percent, fat mass and lean body mass were determined by bioimpedance meter and leptin levels were determined. The presence of 25th codon oligopolymorphism in the leptin gene was done by PCR-RFLP technique. Mean leptin levels were 38.5±22.0ng/ml, and 147.9±44.8ng/ml in the control and obese groups, respectively. The correlations of serum leptin level to body fat percentage and fat mass in the control group were significant. The correlations in the obese group were not significant. This data implies that the difference of leptin levels between control and obese groups are more likely to be associated with alterations in the leptin gene other than 25th codon or alterations in the leptin receptor gene. © 2014 Informa UK Ltd. All rights reserved.
  • No Thumbnail Available
    Item
    A novel association between TGFb1 and ADAMTS4 in coronary artery disease: A new potential mechanism in the progression of atherosclerosis and diabetes
    (2015) Uluçay S.; Çam F.S.; Batır M.B.; Sütçü R.; Bayturan Ö; Demircan K.
    OBJECTIVE: Coronary artery disease is characterized by atherosclerosis in the vessel wall. Recently, it has been thought that increasing LDL-binding capacity of subendothelial proteoglycan fragments that are formed by protease activity can be responsible for the initiation of atherosclerosis. ADAMTS4 is a member of the versican-degrading proteinases. In vitro studies demonstrated that TGFb inhibits the expression of ADAMTS4 in macrophages. In this study, we aimed to investigate the role and association between TGFb1 and ADAMTS4 in coronary artery disease.; METHODS: A total of 84 cases with atheroma plaque and 72 controls without plaque were analyzed. The severity of disease was determined by Gensini score. TGFb1 gene polymorphisms were genotyped by the PCR-RFLP method. TGFb1 and ADAMTS4 serum levels were measured by ELISA method. Statistical analyses of genotypes and their relationship with serum levels were performed by chi-square, student t test and ANOVA.; RESULTS: ADAMTS4 levels were higher in cases compared with controls (p<0.05). In the patient group, ADAMTS4 levels were higher than in controls and correlated with TGFb1 serum levels (r=0.29; p<0.05) and severity of disease (r=0.20; p<0.05). The TGFb1 gene CCA haplotype was associated with 3.3-fold increase in coronary artery disease (OR=3.26 95% CI 1.22-8.68; p<0.05). Unexpectedly, ADAMTS4 serum levels were also higher in diabetic cases (p=0.05).; CONCLUSION: This study has demonstrated that ADAMTS4 may be responsible for the pathogenesis of atherosclerosis. This is the first report about the association between ADAMTS4 and TGFb1 serum levels in the progression of atherosclerosis in CAD. Furthermore, it is seen that TGFb1 haplotype can cause a genetic susceptibility to CAD in the Turkish population. To our knowledge, this is also the first report suggesting higher serum ADAMTS4 levels in diabetic patients.
  • No Thumbnail Available
    Item
    Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis
    (Springer Verlag, 2018) Ergon E.Y.; Akil İ.O.; Taneli F.; Oran A.; Ozyurt B.C.
    The incidence of urinary tract stones in infancy has been increasing in Turkey. Risk factors and vitamin D receptor (VDR) gene polymorphisms were investigated in infants aged < 1 year who had stones. Forty infants with urinary tract stones and 80 infants without stones, aged < 1 year were enrolled in this study. Detailed surveys were taken of all infants, metabolic parameters and ApaI and FokI VDR gene polymorphisms were investigated. Infants with stones tended to be more commonly fed formula and multivitamins (vitamins A, C, D) (p < 0.05). Positive family history came into prominence in the stony group (p < 0.05). There were no significant differences in ApaI and FokI VDR gene polymorphisms between the groups with stones and the control groups. However, CA genotype of ApaI polymorphism was associated with family history and C allele of ApaI was related with family history and hypercalciuria (p < 0.05). Hypercalciuria emerged as an underlying metabolic abnormality in the etiology of stones, and was observed at a rate of 38%. Infants who are given formula and multivitamins for vitamin D supplementation are at increased risk for the formation of urinary tract stones. VDR gene polymorphisms cause the formation of urinary tract stones and affect calcium (Ca) metabolism. © 2017, Springer-Verlag GmbH Germany.