Browsing by Author "Cam F.S."
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Item Association between the ACE I/D gene polymorphism and physical performance in a homogeneous non-elite cohort(Human Kinetics Publishers Inc., 2005) Cam F.S.; Colakoglu M.; Sekuri C.; Colakoglu S.; Sahan Ç.; Berdeli A.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 (χ2 = 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. © 2005 Canadian Society for Exercise Physiology.Item Renin-angiotensin system gene polymorphisms and premature coronary heart disease(JRAAS Limited, 2005) Sekuri C.; Cam F.S.; Ercan E.; Tengiz I.; Sagcan A.; Eser E.; Berdeli A.; Akin M.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.Item ACE genotype may have an effect on single versus multiple set preferences in strength training(2005) Colakoglu M.; Cam F.S.; Kayitken B.; Cetinoz F.; Colakoglu S.; Turkmen M.; Sayin M.A polymorphic variant of the human angiotensin converting enzyme (ACE) gene was identified. The 'D' (rather than 'I') variant was associated with improvements in strength related to physical training. We set out to determine whether the response to different patterns of strength training might also differ. Ninty-nine Caucasian male non-elite athletes were randomly allocated into one of three groups: 31 non-training/ control (CG: 31), single-set (SSG: 35) and multiple-set (MSG: 33). SSG and MSG trained three times a week for 6 weeks. Both training groups were underwent a strength-training program with two mesocycles (12-15 repetition maximum (RM) and 8-12 RM mesocycles). One RM loads in half squat and bench press were assessed before training and after the first and second mesocycles. ACE polymorphisms analysed by polymerase chain reaction (PCR) methods. Subjects with ACE II genotype in the MST group had improved strength development in 12-15 RM, while SST and MST groups had similar gains in 8-12 RM. Subjects with ACE DD genotype in both the SSG and the MSG had similar benefits from both 12-15 RM and 8-12 RM. Strength gains for subjects with ACE ID genotype in the SSG were similar to MSG gains in response to 8-12 RM loads but not with 12-15 RM loads. Additionally, subjects with DD genotype had superior strength gains in both strength training groups. Tailoring strength training programmes (single-set vs. multiple set) according to the athlete's ACE genotype may be advantageous. © Springer-Verlag 2005.Item Relationship between ace genotype and short duration aerobic performance development(2006) Cerit M.; Colakoglu M.; Erdogan M.; Berdeli A.; Cam F.S.We have previously demonstrated that, ACE D allele may be related with a better performance in short duration aerobic endurance in a homogeneous cohort with similar training backgrounds. We aimed to study the variation in the short-duration aerobic performance development amongst ACE genotypes in response to identical training programs in homogeneous populations. The study group consisted of 186 male Caucasian non-elite Turkish army recruits. All subjects had undergone an identical training program with double training session per day and 6 days a week for 6 months. Performances for middle distance runs (2,400 m) were evaluated on an athletics track before and after the training period. ACE gene polymorphisms were studied by PCR analysis. The distribution of genotypes in the whole group was 16.7% II, n = 31; 46.2% ID, n = 86; 37.1% DD, n = 69. Subjects with ACE DD genotype had significantly higher enhancement than the ID (P < 0.01) and II (P < 0.05) genotype groups. Around 2,400 m performance enhancement ratios showed a linear trend as ACE DD > ACE ID > ACE II (P value for Pearson χ2 = 0.461 and P value for linear by linear association = 0.001). ACE DD genotype seems to have an advantage in development in short-duration aerobic performance. This data in unison with the data that we have obtained from homogenous cohorts previously is considered as an existence of threshold for initiation of ACE I allele effectiveness in endurance performance. This threshold may be anywhere between 10 and 30 min with lasting maximal exercises. © Springer-Verlag 2006.Item No association of interleukin-6 gene polymorphism (-174 G/C) with premature coronary artery disease in a Turkish cohort(2007) Sekuri C.; Cam F.S.; Sagcan A.; Ercan E.; Tengiz I.; Alioglu E.; Berdeli A.OBJECTIVES: Interleukin-6 (IL-6) may contribute to the inflammatory response by activating endothelial cells and stimulating the synthesis of fibrinogen. It might thus be important in the pathogenesis of inflammation associated with coronary artery disease (CAD). Several studies suggested that the -174 C allele was associated with an increased prevalence of coronary heart disease. The aim of this study was to investigate further the association of the IL-6 -174 G/C allele status with premature CAD. METHODS: A total of 120 patients and 105 controls were included in the study. The IL-6 -174 G/C polymorphism was genotyped using PCR-restriction fragment length polymorphism. RESULTS: The genotype distribution of the -174 G/C polymorphism was not different in premature CAD patients (GG: 53%; GC: 42.6%; CC: 4.3%) and controls (GG: 54.3%; GC: 39%; CC: 6.7%) (P=0.72). The prevalence of the C allele was 25.6% in patients and 26.1% in controls. By multiple regression analysis, family history, smoking, diabetes, and hypertension were independent risk factors of premature CAD, but not IL-6 genotype. CONCLUSIONS: We conclude that the IL-6 -174 G/C polymorphism is not associated with the risk of premature CAD, and does not contribute to cardiovascular risk stratification. © 2007 Lippincott Williams & Wilkins, Inc.Item Prevalence of the angiotensin i converting enzyme gene insertion/deletion polymorphism in a healthy turkish population(2009) Berdeli A.; Cam F.S.Angiotensin converting enzyme (ACE) plays an essential role in the renin-angiotensin system. It converts angiotensin I to angiotensin II and inactivates bradykinin and tachykinins. Numerous studies have been published investigating associations of the ACE gene I/D polymorphism with various pathophysiological conditions. We examined the prevalence of the ACE I/D polymorphism in a sample of healthy volunteers from western Turkey, including 1063 healthy Turkish controls. Analysis of the ACE I/D gene polymorphisms by polymerase chain reaction found frequencies of 16.1% for the II genotype, 47.7% for the ID genotype, and 36.2% for the DD genotype. The allele frequency was 39.9% for the I alleles and 60.1% for the D allele. This study demonstrates that the allele and genotype frequency values for the Turkish population are similar to previously published frequencies for Caucasian populations. © 2009 Springer Science+Business Media, LLC.Item Relationship Between Chronic Tinnitus and Glial Cell Line-Derived Neurotrophic Factor Gene rs3812047, rs1110149, and rs884344 Polymorphisms in a Turkish Population(Springer New York LLC, 2016) Orenay-Boyacioglu S.; Coskunoglu A.; Caki Z.; Cam F.S.Glial cell line-derived neurotrophic factor (GDNF) plays a key role in early development of central auditory pathway and the inner ear. However, the auditory pathway studies of GDNF gene polymorphisms are scarce in the literature, and the studies especially associated with tinnitus are limited. Our study aimed to identify whether GDNF gene polymorphisms play any roles in the pathophysiology of tinnitus by investigating the relationship between tinnitus and GDNF polymorphisms. A total of 52 patients with chronic tinnitus and ages ranging from 18 to 55 were admitted to the Ear–Nose–Throat outpatient clinic of Celal Bayar University Medical Faculty Hospital of Manisa, Turkey and constituted the study group. Another 42 patients of the same age range, without tinnitus symptoms and lacking any systemic disease, were also admitted to the clinic and formed the control group. The tympanometric, audiological, and psychoacoustic assessments of the subjects were performed. Deoxyribonucleic acid samples obtained using venous blood taken for routine inspections were used to investigate GDNF gene polymorphisms (rs884344, rs3812047, and rs1110149) by polymerase chain reaction-based restriction fragment length polymorphism method. No correlation could be detected between GDNF rs884344 and rs3812047 polymorphisms and subjects with tinnitus (p > 0.05). Heterozygosity was significantly lower for GDNF rs1110149 polymorphism in tinnitus subjects compared to the controls (p < 0.05). However, the allele frequencies for all 3 polymorphisms were not significantly different between tinnitus and control groups (p > 0.05). Failure to detect correlations between tinnitus and GDNF gene polymorphisms suggests this may be due to the fact that the GDNF gene has a variable expression pattern in different tissues and pathologies. Therefore, the study should be improved and its scope should be expanded by including a larger group of patients and different tissues to investigate the expression pattern of GDNF. © 2016, Springer Science+Business Media New York.Item Evidence of associations between brain-derived neurotrophic factor (BDNF) serum levels and gene polymorphisms with tinnitus(Medknow Publications, 2017) Coskunoglu A.; Orenay-Boyacioglu S.; Deveci A.; Bayam M.; Onur E.; Onan A.; Cam F.S.Background: Brain-derived neurotrophic factor (BDNF) gene polymorphisms are associated with abnormalities in regulation of BDNF secretion. Studies also linked BDNF polymorphisms with changes in brainstem auditory-evoked response test results. Furthermore, BDNF levels are reduced in tinnitus, psychiatric disorders, depression, dysthymic disorder that may be associated with stress, conversion disorder, and suicide attempts due to crises of life. For this purpose, we investigated whether there is any role of BDNF changes in the pathophysiology of tinnitus. Materials and Methods: In this study, we examined the possible effects of BDNF variants in individuals diagnosed with tinnitus for more than 3 months. Fifty-two tinnitus subjects between the ages of 18 and 55, and 42 years healthy control subjects in the same age group, who were free of any otorhinolaryngology and systemic disease, were selected for examination. The intensity of tinnitus and depression was measured using the tinnitus handicap inventory, and the differential diagnosis of psychiatric diagnoses made using the Structured Clinical Interview for Fourth Edition of Mental Disorders. BDNF gene polymorphism was analyzed in the genomic deoxyribonucleic acid (DNA) samples extracted from the venous blood, and the serum levels of BDNF were measured. One-way analysis of variance and Chi-squared tests were applied. Results: Serum BDNF level was found lower in the tinnitus patients than controls, and it appeared that there is no correlation between BDNF gene polymorphism and tinnitus. Conclusions: This study suggests neurotrophic factors such as BDNF may have a role in tinnitus etiology. Future studies with larger sample size may be required to further confirm our results. © 2017 Noise & Health | Published by Wolters Kluwer - Medknow.Item Chronic tinnitus and BDNF/GDNF CpG promoter methylations: a case–control study(Springer Netherlands, 2019) Orenay-Boyacioglu S.; Caliskan M.; Boyacioglu O.; Coskunoglu A.; Bozkurt G.; Cam F.S.Brain-derived neurotrophic factor (BDNF) and Glial-derived neurotrophic factor (GDNF) are neurotrophic factors that play key roles in the auditory pathway. While the relationship between serum levels and polymorphisms of BDNF/GDNF and chronic tinnitus is emphasized in the literature, there is no study showing the link between the promoter methylations of these genes and tinnitus. For this purpose, the relationship between chronic tinnitus and peripheral blood derived BDNF/GDNF promoter methylations was investigated to identify their role in the pathophysiology of tinnitus. In this case–control study, we examined the possible effects of BDNF/GDNF methylations in the blood samples of patients with tinnitus complaints for more than 3 months. Sixty tinnitus subjects between the ages of 18–55 and 50 healthy control subjects in the same age group who were free of any otorhinolaryngology and systemic disease were selected for examination. Methylation of total 12 CpG sites in BDNF and GDNF promoter regions were determined by the bisulfite-pyrosequencing method. Statistically significant differences were detected between BDNF CpG6 and GDNF CpG3-5-6 methylation ratios in the comparison of control group and the chronic tinnitus patients (P = 0.002, 0.0005, 0.00003, and 0.0029, respectively). To our knowledge, this is the first study in the literature investigating the relationship between chronic tinnitus and peripheral blood derived BDNF/GDNF promoter methylations. It is believed that the current results might be supported by investigating the relationships between BDNF/GDNF methylations and genotypes in future research using higher sample sizes. © 2019, Springer Nature B.V.Item Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family(Churchill Livingstone, 2020) Gun Bilgic D.; Gerik Celebi H.B.; Aydin Gumus A.; Bilgic A.; Yazici H.; Ceylaner S.; Yilmaz C.; Polat M.; Akbal Sahin M.; Dereli F.; Cam F.S.Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families. © 2020 Elsevier LtdItem A new clinical entity in T704M mutation in periodic paralysis(Churchill Livingstone, 2020) Gun Bilgic D.; Aydin Gumus A.; Gerik Celebi H.B.; Bilgic A.; Unaltuna Erginel N.; Cam F.S.Periodic paralyses (PPs) are a group of rare disorders characterized by episodic, sudden-onset, flaccid paralysis of skeletal muscles usually resulting in complete recovery after the attacks. PPs are caused by abnormal, mostly potassium-sensitive excitability of the muscle tissue. Hypokalemic and hyperkalemic periodic paralysis (HypoKPP and HyperKPP) have been described according to their characteristic phenotypes and the serum potassium level during the attacks of weakness. The T704M mutation on the SCN4A gene is the most common mutation in HyperKPP. Different mutations of the SCN4A gene have also been reported in some cases of HypoKPP. In this study, a large Turkish family carrying the T704M mutation on the SCN4A gene with HypoKPP disease was examined. A similar history was noted in a total of 17 subjects in the pedigree. SCN4A gene of the patients was sequenced with Sanger sequencing. In this study, this mutation was associated with a HypoKKP diagnosis for the first time in the literature. The symptoms of hallucination and diplopia seen in patients had also never been indicated in the literature before. This report expands the phenotypic variability of the T704M mutation, further confirming the lack of genotype-phenotype correlation in SCN4A mutations. © 2020 Elsevier LtdItem Relationship between C-reactive Protein/Albumin Ratio and Subclinical Inflammation in Patients with Familial Mediterranean Fever; [Korrelation zwischen C-reaktiven Protein/Albumin-Quotienten und subklinischen Entzündungen bei Patienten mit Familiärem Mittelmeerfieber](Georg Thieme Verlag, 2021) Onder E.N.A.; Cam F.S.; Ertan P.Background Familial Mediterranean Fever (FMF), which is characterised by recurrent episodes of fever with serositis, is associated with ongoing inflammation without clinical findings during attack-free periods, leading to amyloidosis, the most important complication of FMF. The objective of this study was to investigate the C-reactive protein/albumin ratio (CAR) as a marker to identify subclinical inflammation in symptom-free FMF children and compare the CAR with other systemic inflammatory markers such as mean platelet volume (MPV), red cell distribution width (RDW), neutrophil/lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR). Material and Methods We included 100 patients and 70 healthy subjects. Hospital records were obtained to collect data on laboratory findings and genetic mutations. Results We found that the CAR levels of our FMF patients were significantly higher than those of the control group. We also evaluated that the CAR values had a higher area-under-thecurve value than the other systemic inflammation parameters including CRP, MPV, RDW, NLR, PLR based on Receiver-Operating Characteristics (ROC) analysis. Conclusion It is important to identify subclinical inflammation in FMF patients with simple, reliable, easily accessible markers to avoid amyloidosis. Although the CAR might be used to assess subclinical inflammation in paediatric FMF patients, the prognostic value of CAR is not superior to CRP. Merging CRP and albumin into a single index thus provides no additional benefit in detecting subclinical inflammation in FMF. © 2021. Thieme. All rights reserved.Item Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations(Verlag Klinisches Labor GmbH, 2022) Gun-Bilgic D.; Aydin-Gumus A.; Bilgic A.; Cam F.S.Background: Mutations of the BRCA1/2 genes are associated with increased breast and ovarian cancer. The aim of this study was to investigate the founder mutations of the BRCA1 and BRCA2 genes in the Turkish population in the Aegean region as well as their genotype-phenotype correlations. Methods: All the patients were provided with BRCA1/2 testing criteria according to the National Comprehensive Cancer Network. QIAseq Targeted DNA Panels were used for the BRCA1/2 coding regions. Results: Of the 181 studied patients, 38 (21%) were found to carry pathogenic or likely pathogenic mutations, while 20 (11%) patients were found to carry variants of unknown significance. The most common pathogenic mu-tations were NM_000059.4:c.2765dup in the BRCA2 gene and NM_007300.4:c.981_982del and NM_007294.3:c. 5266dup in the BRCA1 gene. p.Lys3326∗Was the most frequently detected variant of unknown significance (6/ 181). Regarding genotype-phenotype correlations, the NM_007300.4:c.981_982del mutation in BRCA1 gene was found to be milder in terms of breast cancer. The most frequent cancers other than those related to BRCA genes, observed in the relatives of the patients who had pathogenic variants and variants of unknown significance, were endometrium cancer and leukemia, respectively. Conclusions: NM_007294.3:c.5266dup was found to be a candidate founder mutation in the Turkish population. NM_007300.4:c.981_982del mutation seems to have a milder course in terms of breast cancer. A significantly in-creased frequency of p.Lys3326∗variant in breast cancer and ovarian cancer patients compared with that in the 1,000 Genomes Project suggesting that this variant has a slight effect on BRCA2 function. © 2022 Verlag Klinisches Labor GmbH. All rights reserved.Item Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey(Churchill Livingstone, 2022) Bisgin A.; Sag S.O.; Dogan M.E.; Yildirim M.S.; Gumus A.A.; Akkus N.; Balasar O.; Durmaz C.D.; Ersoz R.; Altiner S.; Alemdar A.; Aliyeva L.; Boga I.; Cam F.S.; Dogan B.; Esbah O.; Hanta A.; Mujde C.; Ornek C.; Ozer S.; Rencuzogullari C.; Sonmezler O.; Bozdogan S.T.; Dundar M.; Temel S.G.BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape. Overall, 68 and 157 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-two novel variants were reported from both genes while BRCA2 showed higher mutational heterogeneity. We herein report the collective data as BRCA Turkish consortium that confirm the molecular heterogeneity in BRCAs among Turkish population, and also as the first study presenting the both geographical, demographical and gene based landscape of all recurrent and novel mutations which some might be a founder effect in comparison to global databases. This wider perspective leads to the most accurate variant interpretations which pave the way for the more precise and efficient management affecting the clinical and molecular aspects. © 2022 The AuthorsItem Genes predisposing tunneled catheter thrombosis in hemodialysis patients; [Hemodiyaliz hastalarında tünelli kateter trombozuna yol açan genler](Baycinar Medical Publishing, 2022) Senarslan D.A.; Gümüş A.A.; Cam F.S.; Kurdal A.T.Background: This study aims to investigate the association of genes predisposing thrombophilia with tunneled catheter thrombosis in hemodialysis patients. Methods: Between October 2018 and December 2020, we compared the frequencies of genetic polymorphisms causing thrombophilia, including prothrombin G20210A, factor V Leiden, methylene tetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI), factor XIII V34L and clinical characteristics of 52 patients with a history of ≥2 tunneled catheter thrombosis occlusions within a year (Group 1; 24 males, 28 females; mean age: 62±8.9 years; range, 45 to 77 years), 52 patients who underwent their first tunneled catheter thrombosis insertion (Group 2; 29 males, 23 females; mean age: 63±15.2 years; range, 22 to 87 years), and 51 healthy controls (Group 3; 26 males, 25 females; mean age: 34±9.2 years; range, 19 to 54 years). Results: Groups 1 and 2 carried the MTHFR A1298C (p=0.048) and compound heterozygous MTHFR A1298C and C677T (p=0.048) polymorphisms more frequently than Group 3. However, subgroup analysis results were not statistically significant. The other polymorphisms were distributed similarly in all three groups. The MTHFR polymorphisms had a weak effect on tunneled hemodialysis catheter thrombosis in neural network analysis. Conclusion: Our study results indicated that there was a concomitance of MTHFR polymorphisms with hemodialysis-dependent chronic kidney disease. The MTHFR A1298C and compound heterozygous MTHFR polymorphisms may be associated with tunneled hemodialysis catheter thrombosis. Thrombophilia gene screening may be recommended in hemodialysis patients undergoing tunneled hemodialysis catheter thrombosis at least twice in a year. © 2022 All right reserved by the Turkish Society of Cardiovascular Surgery. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes (http://creativecommons.org/licenses/by-nc/4.0/).