157 research outputs found
BMP1 5'UTR+104 T/C gene variation: can be a predictive marker for serum HDL and apoprotein A1 levels in male patients with coronary heart disease
No full textAkadam Teker, Aysegul Basak/0000-0003-3618-0560; Ozturk, Oguz/0000-0002-2439-9269WOS: 000444752900058PubMed: 30062502Apolipoprotein A1 (Apo A1), the major protein of HDL, is secreted as a proprotein and then is cleaved by C-terminal procollagen endoproteinase/bone morphogenetic protein-1 (BMP1). BMP1 stimulates the conversion of newly secreted proapo A1 to its phospholipid-binding form. Therefore, genetic variations of BMP1 gene may affect serum ApoA1 and HDL levels. We aimed to investigate the effects of the functional 5'UTR + 104 (T/C) variant of BMP1 on serum ApoA1 and HDL levels and risk of coronary heart disease (CHD) in this study. The BMP1 5'UTR + 104 (T/C) (rs143383) variation was determined in 131 male patients with CHD and 51 male controls by real-time polymerase chain reaction technique. ApoA1 levels were measured by immunoturbidimetry. The serum Apo-A1 levels were found higher in controls with the BMP1-CC genotype than those with the T-allele (p < 0.001). Our findings show the association of this variation with serum ApoA1 and HDL-C levels which increase in the order of CT < TT < CC in the controls. No effect was found on ApoA1 and HDL-C levels in CHD patients, as it was observed in the controls. However, the BMP1-TT genotype was associated with higher triglyceride (TG) levels as compared to C-allele (p = 0.009). These discrepancies could be due to statin therapy which has dominant effects on lowering cholesterol levels comparing to TG levels. Our results indicated that the BMP1 5'UTR + 104 (T/C) variation may affect the serum ApoA1 and lipoprotein levels depending on statin therapy so that contributes to the development of CHD.Scientific Research Projects Coordination Unit of Istanbul UniversityIstanbul University [11304]The present study was supported by a grant from the Scientific Research Projects Coordination Unit of Istanbul University (Project No: 11304)
Genetic polymorphisms of the SHBG gene can be the effect on SHBG and HDL-cholesterol levels in Coronary Heart Disease: a case-control study
No full textAkadam Teker, Aysegul Basak/0000-0003-3618-0560WOS: 000478684300060PubMed: 31111369Sex hormone binding globulin (SHBG) level is positively associated with the high-density lipoprotein cholesterol (HDL-C) levels. The aim of this study was to investigate the effects of the SHBG gene variations (D356N, rs1799941, and P156L) on SHBG and HDL-C levels and Coronary Heart Disease (CHD) risk. The SHBG D356N (rs6259,G>A), P156L (rs6258,C>T), and rs1799941(G>A) polymorphisms were determined in 131 male CHD patients and 55 male controls by PCR-RFLP and real-time PCR techniques. SHGB levels were measured by Electro-chemiluminescence immunoassay (ECLIA). In the patients who had SHBG levels lower than threshold 35nmol/l value, the risk of being HDL-C levels lower than threshold 0.90mmol/l value was observed statistically significant (p=0.017; OR 2.522, 95% CI 1.170-5.438). The rs1799941 GG was associated with increased CHD risk when compared with the A allele carriers (GA+AA) (p=0.019, OR 2.222, 95% CI 1.130-4.371). In addition, the rs1799941 GG genotype and D356NN allele were associated with lower SHBG in the CHD group (p<0.01). The logistic regression analysis also revealed the rs1799941 GG genotype was significantly associated with low SHBG in CHD patients. It was observed that Haplotype-1(rs1799941 G allele-P156L P allele-D356N D allele) was associated with increased CHD risk, while Haplotype-2 (rs1799941 rare A allele-P156L C allele- D356N G allele) was correlated with the decreased CHD risk (p=0.0167). Our findings suggest that there is a positive correlation between SHBG and HDL-C levels in CHD patients, and this association might be affected by SHBG gene variations.Research Fund of Istanbul UniversityIstanbul University [12104]The present work was supported by the Research Fund of Istanbul University. Project No. 12104. The authors would like to thank Professor Oguz Ozturk and Associate Professor Ozlem Kucukhuseyin for their statistical contribution and valuable comments and suggestions, which were helpful in improving the paper
Effects of the Variants of Activin Receptor-like Kinase-1 and 2 on the Lipid Profile of Patients with Coronary Heart Disease
No full textIntroduction: Coronary heart disease (CHD) due to atherosclerosis is a multifactorial disease with high morbidity caused by interaction of various genetic and environmental factors. Hyperlipidemia which is accepted as the most important risk factor for atherosclerosis; characterized by high concentration of low density lipoprotein (LDL)-cholesterol (LDL-C) and low concentration of high density lipoprotein (HDL)-cholesterol (HDL-C). Epidemiological studies prove the inverse relationship between HDL-C levels and CHD. Apolipoprotein A1, the major protein of HDL, is secreted as proprotein and then cleaved by C-terminal procollagen endoproteinase/bone morphogenetic protein-1 (BMP-1). Reporting of the role of BMP receptors in lipoprotein metabolism indicates that variations in these genes may be important. However, there are no studies in the literature about the variations in type I receptors for activin receptor-like kinase (ALK) 1 and ALK2 and its effects on lipid profile. In this study, it was aimed to determine the role of the gene variants of ALK1 (Q292P ve S333G) and ALK2 (R206H) receptors in the development of CHD and their effects on serum lipoprotein levels.
Methods: This study was carried out using a sample of 131 patients with CHD and 51 controls. ALK1 and ALK2 genotypes were determined by real-time polymerase chain reaction and technique.
Results: Genotype distributions of ALK1 and ALK2 were the same between the study groups (p>0.05). Mutations in ALK1 and ALK2 were observed only in the patient group. ALK1 Q292P mutation and ALK2 R206H mutation exerted positive effects on the serum lipid profile.
Conclusion: The findings of our study suggested that mutations of ALK1 and ALK2 genes may contribute to antiatherogenic lipid profile and may protect against the development of CHD.Supported by Istanbul University Scientific Research Projects Unit (no: 11304)
Glycoprotein Ib alpha Kozak polymorphism in patients presenting with early-onset acute coronary syndrome
No full texthancer, veysel sabri/0000-0003-2994-1077WOS: 000436361500011PubMed: 30013602Introduction: Glycoprotein Ib alpha (GPIb alpha) receptor is the chief molecule responsible for initial platelet adhesion to the subendothelium. A thymidine to cytosine single nucleotide substitution at position -5 from the ATG start codon characterizes the Kozak sequence polymorphism. The Kozak sequence polymorphism may increase the surface expression of GPIb alpha and contribute to thrombogenesis. We evaluated the allele frequencies of GPIb alpha Kozak sequence polymorphism in the Turkish population and examined the relationship between GPIb alpha Kozak sequence polymorphism and early-onset acute coronary syndrome (ACS). Material and methods: This study enrolled 200 patients (122 male, 78 female, mean age: 39 +/- 5 years) and 200 healthy control subjects (110 male, 90 female, 41 +/- 4 years). The patient group was composed of patients admitted to our coronary care unit with early-onset ACS and patients who attended to our cardiology outpatient clinic after hospital discharge with a diagnosis of early-onset ACS. Results: Kozak polymorphism frequencies in patients and control subjects did not differ significantly (23% versus 22.5%, p = 0.812, respectively). In patients who presented with non-ST elevation myocardial infarction (NSTEMI), the frequency of GPIb alpha Kozak polymorphism was borderline significantly higher when compared with patients who presented with ST elevation myocardial infarction (STEMI) (35% vs. 20%, p = 0.05, respectively). Allele frequencies of T and C were calculated to be 0.873 and 0.128. Conclusions: Although the frequency of GPIb alpha Kozak polymorphism did not differ significantly in early-onset ACS patients versus control subjects, Kozak polymorphism frequency was borderline significantly higher in patients who presented with NSTEMI when compared to patients with STEMI
Association between the interferon gamma 874 T/A polymorphism and the severity of valvular damage in patients with rheumatic heart disease
No full textOzturk, Oguz/0000-0002-2439-9269WOS: 000433521500005PubMed: 29332266Interferon gamma (IFN-gamma) is a multifunctional cytokine that plays an important role in modulating almost all phases of the immune response and may be responsible for the increased valvular fibrosis and calcification in the pathogenesis of rheumatic heart disease (RHD). The aim of this study was to investigate the possible relationship between the IFN-gamma +874 T/A polymorphism and the severity of valvular damage in the Turkish population. The IFN-gamma genotypes were determined in 152 RHD patients and 151 healthy controls by ARMS-PCR. Differences in genotype distribution between patients with RHD and control were evaluated by the chi (2) test. All statistical analyses were performed with SPSS 15.0 Software program. Frequency of the AA genotype was found to be significantly lower and the TT genotype significantly higher in the RHD group compared to controls (p = 0.002 and p = 0.018, respectively). The TT genotype was found to be significantly higher (26.8% vs. 9.1%, p = 0.009) and the AA genotype significantly lower (29.1% vs. 8.2%, p = 0.001) in the severe valvular disease (SVD) group compared to mild valvular disease group. In the SVD group, 79 patients had mitral balloon valvotomy and/or mitral valve replacement and had significantly higher TT genotype compared to patients with medical follow-up (30.4% vs. 19%, p = 0.001). The data demonstrated that TT genotype is associated with both RHD and the severity of RHD.Scientific Research Projects Coordination Unit of the Istanbul UniversityIstanbul University [6963]This study was supported by a grant from the Scientific Research Projects Coordination Unit of the Istanbul University (Project No. 6963)
A multiphase phase-field study of three-dimensional martensitic twinned microstructures at large strains
Get PDFA thermodynamically consistent multiphase phase-field approach for stress and temperature-induced martensitic phase transformation at the nanoscale and under large strains is developed. A total of N independent order parameters are considered for materials with N variants, where one of the order parameters describes A M transformations and the remaining N-1 independent order parameters describe the transformations between the variants. A non-contradictory gradient energy is used within the free energy of the system to account for the energies of the interfaces. In addition, a non-contradictory kinetic relationships for the rate of the order parameters versus thermodynamic driving forces is suggested. As a result, a system of consistent coupled Ginzburg-Landau equations for the order parameters are derived. The crystallographic solution for twins within twins is presented for the cubic to tetragonal transformations. A 3D complex twins within twins microstructure is simulated using the developed phase-field approach and a large-strain-based nonlinear finite element method. A comparative study between the crystallographic solution and the simulation result is presented.This is a pre-print of the article Basak, Anup, and Valery I. Levitas. "A multiphase phase-field study of three-dimensional martensitic twinned microstructures at large strains." arXiv preprint arXiv:2206.12576 (2022).
DOI: 10.48550/arXiv.2206.12576.
Copyright 2022 The Author(s).
Attribution 4.0 International (CC BY 4.0).
Posted with permission
The LOX-1 3'UTR188CT polymorphism and coronary artery disease in Turkish patients
No full textIn coronary artery disease (CAD), a potentially reversible factor leading to cardiac death is left ventricular hypertrophy (LVH). The 3'untranslated region (3'UTR) 188CT polymorphism of lectin-like oxidized low-density lipoproteins receptor-1 (LOX-1) gene has been associated with an increased risk for CAD. We aim to investigate, in a Turkish population, whether 3'UTR188CT variation could affect the development of LVH in CAD patients. In a population-based case-control study, we compared 83 cases with CAD and 99 healthy controls for this polymorphism. The LOX-1 3'UTR188CT genotypes were determined by PCR-RFLP technique. LOX-1 3'UTR188 TT genotype was associated with significantly increased systolic blood pressure (P = 0.047) and risk of LVH (P = 0.014, OR: 3.541) when compared with the C allele carriers. In addition, the TT genotype was positively associated with decreased levels of HDL-cholesterol in the control subjects (P = 0.031) and increased levels of VLDL-C in the patient group (P = 0.009). The LOX-1 3'UTR188CT gene polymorphism may predispose to the development of LVH in CAD patients, dependent on blood pressure
Effects of the PPARG P12A and C161T gene variants on serum lipids in coronary heart disease patients with and without Type 2 diabetes
No full textWe investigated whether PPAR-gamma 2 gene polymorphisms are associated with serum lipids and the occurrence of coronary heart disease (CHD) prospectively characterised for the presence or absence of Type 2 diabetes in a Turkish population. Our study included 202 patients with CHD (102 with diabetes, 100 without diabetes) and 105 controls. PPAR gamma genotypes were determined by PCR-RFLP technique. The PPAR gamma-C161T CC homozygote genotype was associated with significantly increased CHD risk when compared with the T allele carriers (CT+TT) in CHD patients with diabetes (OR:1.951, 95%CI: 1.115-3.415, P = 0.019), whereas PPAR gamma-P12A polymorphism was not associated with CHD risk (P > 0.05). Serum HDL-C levels were significantly lower in controls with the P12A heterozygote when compared with the P12P homozygote (P = 0.002). In the CHD patients with diabetes, CT heterozygote genotype showed higher serum triglyceride than the CC homozygote genotype (CT:2.42 +/- A 1.89 vs. CC:1.61 +/- A 0.21, P = 0.015). Our findings shows the association of these two polymorphisms with serum triglyceride levels, which was increased in the order of P12P-CC < P12P-CT < P12A-CC < P12A-CT in the CHD patients with diabetes. Furthermore, we observed that the increasing effects of the CT genotype on serum triglyceride levels could be modified by PPAR gamma P12A polymorphism (P12A-CT:2.30 +/- A 1.75 vs. P12P-CC:1.79 +/- A 1.14, P = 0.028). We suggested that homozygote CC genotype of the PPAR gamma C161T polymorphism might be associated with an increased CHD risk especially in patients with diabetes. We observed that the C161T CT heterozygote genotype shows an unfavorable effect on serum lipid profile in CHD patients with diabetes and this effect was weaken with the presence of P12P homozygote genotype
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