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    eNOS and VEGF Variants Might Increase the Risk of Pancreatic Cancer
    (Pleiades Publishing Inc, 2021) Hasan Dagmura; Yigit, Serbulent; Gumusay, Ozge; Nursal, Ayse Feyda; Daldal, Emin; Karakus, Nevin
    Background: Endothelial nitric oxide synthase (eNOS) is essential in chronic inflammation and carcinogenesis. The association between variants in vascular endothelial growth factor (VEGF) and several cancers still remains uncertain. We studied whether there is a relation between eNOS/VEGF variants and risk of pancreatic cancer (PC). Materials and Methods: This prospective case-control study included 76 PC patients (28 women and 48 men) and 100 healthy controls. Blood samples from all participants were genotyped for eNOS variable number tandem repeat (VNTR) and VEGF insertion/deletion (I/D) variants by PCR. Results: There was a significant difference between groups for the eNOS intron 4 VNTR genotype distributions (p = 0.01). eNOS 4a/4b and 4b/4b genotypes were higher in patients with PC group compared to controls while eNOS 4a/4b genotype was more prevalent in control group than in patient group. Significant differences were observed between groups for the VEGF I/D variant genotype and allele frequencies (p < 0.00, and p < 0.00). VEGF I/D variant I/I genotype and I allele increased in patient group than controls. A statistically significant association was observed when the patients were compared with the controls according to D/D + D/I versus D/D (p < 0.00, OR: 0.094, 95% CI: 0.03-0.22). Conclusions: We provided evidence that eNOS VNTR and VEGF I/D variants might influence the development of PC.
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    Estrogen Receptor 1 Gene rs22346939 and rs9340799 Variants are Associated with Major Depressive Disorder and its Clinical Features
    (Bentham Science Publ Ltd, 2021) Ozsoy, Filiz; Nursal, Ayse F.; Karakus, Nevin; Demir, Meral O.; Yigit, Serbulent
    Objective: Major Depressive Disorder (MDD) is a major health problem worldwide. Estrogen interacts with the central nervous system and has been shown to affect anxiety and depressive behavior. Estrogen mediates its effects by connecting its receptors, estrogen receptors 1 and 2. The purpose of this case-control study was to clarify the association between MDD risk and estrogen receptor 1 (ESR1) gene variants. Methods: This study included 245 individuals (125 MDD patients and 120 healthy controls). Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) technics were used for genotypingESR1XbaII (rs9340799) and PvuII (rs22346939) variants. Results: There were statistically significant differences between the groups in terms of genotype frequencies of the ESR1PvuII (-397 T > C) variant (p = 0.049) but not for the XbaII (-351 A > G) variant (p > 0.05). However, a correlation was observed between MDD and ESR1XbaII variant after male participants were excluded (p = 0.028). Also, the high pain score of MDD patients was associated with the ESR1PvuII variant, especially in female patients (p = 0.021). According to the results of combined genotype analysis, AA-TC combined genotype was correlated with a decreased risk in patients with MDD compared to controls (p = 0.016), while the combined genotype of GGCC was associated with increased risk in the patients with MDD compared to controls (p = 0.042). Conclusion: The two ESR1 variants were associated with MDD risk and its features in both individual and combined forms.
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    Impact of Endothelial NOS VNTR Variant on Susceptibility to Diabetic Neuropathy and Type 2 Diabetes Mellitus
    (Bentham Science Publ Ltd, 2021) Yigit, Serbulent; Nursal, Ayse Feyda; Uzun, Suheyla; Rustemoglu, Husniye; Dashatan, Payam Amiri; Soylu, Huseyin; Karakus, Nevin
    Purpose: The aim of this study was to evaluate whether the VNTR intron 4b/4a variant in the eNOS gene is associated with type 2 diabetes mellitus (T2DM) and DPN. Methods: A total of 598 subjects were enrolled in the study. eNOS VNTR 4b/4a variant was geno-typed by polymerase chain reaction (PCR) method. Results: eNOS VNTR intron 4b/4b genotype and b allele increased in patients with both DPN and T2DM compared healthy controls (p=0.0005, OR:1.94, p=0.000002, OR:4.10, respectively). 4a/4b genotype was more prevalent in controls than in DPN and T2DM patients (p=0.00008, OR:0.46; p=0.000004, OR:0.24, respectively). eNOS VNTR b allele was more common in DPN patients and T2DM patients compared with controls (p=0.007, p=0.00002, respectively). Conclusion: The eNOS VNTR 4b/4b homozygous genotype and hence 4ballele as a genetic risk factor for T2DM and DPN, which may serve as a useful marker of increased susceptibility to the risk of these disorders.
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    Importance of NPC1 Gene 644 A -> G Mutation in Coronary Artery Disease
    (Kamla-Raj Enterprises, 2017) Ozturk, Sibel Demir; Celik, Atac; Nursal, Ayse Feyda; Tekcan, Akin; Rustemoglu, Aydin; Karakus, Nevin; Yigit, Serbulent
    Coronary artery disease (CAD) is the most prominent cause of mortality worldwide. The basis of CAD pathogenesis is the occlusion of coroner vessels progressively due to atherosclerotic plaques. NPCI gene plays a critical role in the atherosclerosis progression. This study aimed to examine whether 644 A -> G polymorphism of NPCI is associated with the risk of coronary artery disease in Turkish patients. In this case-control study, 200 persons were studied (100 patients and 100 controls). The 644 AEG polymorphism of NPCI gene is analyzed using polymerase chain reaction and restriction fragment length polymorphism methods. There was a significant relationship between the distribution of coronary artery disease and control group in terms of allele and genotype frequency (p= 0.0002) (p=0.003), respectively. According to the researchers' results, 644 A -> G polymorphism in NPCI gene can be one of the predisposition factor to coronary artery disease in Turkish population.
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    Influence of ESR1 Variants on Clinical Characteristics and Fibromyalgia Syndrome in Turkish Women
    (Bentham Science Publ Ltd, 2021) Arslan, Habibe S.; Nursal, Ayse F.; Inanir, Ahmet; Karakus, Nevin; Yigit, Serbulent
    Background: Fibromyalgia syndrome (FMS) is characterized by widespread musculoskeletal pain. It is more common in women than in men, and sex hormones may play a role in this predominance. Therefore, this research investigated the clinical findings among Turkish females and whether Estrogen-alpha (ESR1) gene variants are associated with FMS. Methods: A total of 219 individuals were enrolled in this study. ESR1 variants (Pvull/XbaI) were genotyped using PCR-RFLP methods. The results of the analyses were evaluated for statistical significance. Results: There was a significant association between the ESR1 PvuII and FMS risk among Turkish women. The ESR1 PvuII CC genotype and C allele were higher in the patients than those in the controls (p=0.021, p=0.007, respectively). A more statistically significant association was observed between the patients and the controls in terms of TT genotype vs. TC+CC genotypes (p=0.022). Also, there was a statistically significant association between the patients and the controls in terms of TT+TC genotype vs. CC genotypes (p =0.028). There was no significant association between patients and the control group concerning the genotype distribution and allele frequencies of ESR1 XbaI (p>0.05). Headache was seen more frequently in the XbaI GA genotype (p =0.025), while XbaI AA genotype was associated with dysmenorrhea in patients with FMS (p=0.041). Conclusion: Our results indicate that ESR1 PvuII/XbaI variants are possibly effective in the development of FMS and some clinical features.
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    MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort
    (Wiley, 2018) Nursal, Ayse Feyda; Kaya, Suheyla; Sezer, Ozlem; Karakus, Nevin; Yigit, Serbulent
    BackgroundMethylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. Material-MethodsThis case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods. ResultsThe genotype distribution and allele frequency of the MTHFR C677T were statistically different between the patients and the control group (P=.006, P=.001, respectively). The frequency of the TT genotype and T allele of MTHFR C677T was significantly higher in the patients than in the controls. The genotype distribution of MTHFR A1298C variant did not show any statistically significant difference between the patients and the controls (P=.05). The patients had statistically different frequencies in allele C of MTHFR A1298C variant compared with the control (P=.032). We also examined the risk associated with inheriting the combined genotypes for the two MTHFR variants. According to these results, individuals who were CC homozygous at C677T locus and AA homozygous at A1298C locus have a lower risk of developing FMF (P=.002). Individuals who were TT homozygous at C677T locus and AC heterozygous at A1298C locus have higher risk of developing FMF (P=.033). ConclusionOur findings clearly showed there was an association the MTHFR C677T/A1298C variants and susceptibility to FMF in the Turkish sample.
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    The Impact of PER3 VNTR Polymorphism on the Development of Schizophrenia in a Turkish Population
    (Pleiades Publishing Inc, 2021) Ozsoy, Filiz; Yigit, Serbulent; Nursal, Ayse Feyda; Kulu, Muberra; Karakus, Nevin
    Introduction: Up to 80% of patients who suffer from schizophrenia have sleep impairments, which affect physical and mental health, as well as quality of life. Several tandem repeat polymorphisms (VNTRs) in the Period 3 (Per3) gene have been associated with heritable sleep and circadian variables. The purpose of this study is to investigate the relationship between the VNTR variant of the PER3 gene and genetic predisposition of schizophrenia in a Turkish population. Method: Blood samples were taken from 100 patients with schizophrenia, and from 100 normal controls who are age and sex-matched. PER3 genotyping was performed on DNA by polymerase chain reaction (PCR) using specific primers. Results: For the PER3 VNTR polymorphism, we found no significant differences in the genotype distribution and allele frequency, between the schizophrenia and control groups. No association was noted between clinical and demographical characteristics of schizophrenia patients and the PER3 VNTR genotype distribution. Conclusions: This is the first study investigating association of the PER3 VNTR polymorphism with schizophrenia in a Turkish population. In conclusion, the results of this study do not support an association between the PER3 VNTR polymorphism and risk of schizophrenia in a Turkish population.