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Öğe Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population(Aves, 2020) Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin, Meryem; Bagci, GokhanObjective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey. Materials and Methods: A total of 27 patients who were diagnosed with ADPKD were included in this study. Their mean age and body mass indices were determined. The gene variants were analyzed by targeted next-generation sequencing method. Results: In 17 (64.3%) of the 27 patients, the variants were detected in PKD1 and/or PKD2 genes. There were 13 patients (48.1%) with PKD1 gene variants and 5 (18.5%) with PKD2 gene variants. Of the 17 patients, 1 had both PKD1 and PKD2 gene variants. We observed that 16 patients with ADPKD (66.6%) had hypertension, and liver cysts were detected in 9 (33.3%) patients. Conclusion: PKD1 gene mutations were found in a significant number of patients with ADPKD, and hypertension is a frequently observed finding in them. In some patients, liver cysts may accompany the clinical picture of ADPKD. Our findings provide important insights for the genetic counseling of these patients.Öğe Angiotensin-Converting Enzyme (ACE) I/D and Alpha-Adducin (ADD1) G460W Gene Polymorphisms in Turkish Patients with Severe Chronic Tinnitus(AVES, 2016) Yuce, Salim; Sancakdar, Enver; Bagci, Gokhan; Koc, Sema; Kurtulgan, Hande Kucuk; Bagci, Binnur; Dogan, Mansur; Uysal, Ismail OnderOBJECTIVE: Tinnitus is described as a disturbing sound sensation in the absence of external stimulation. We aimed to investigate whether there is any relationship between severe chronic tinnitus and angiotensin-converting enzyme (ACE) I/D and alpha-adducin (ADD1) G460W gene polymorphisms. MATERIALS and METHODS: The patient group and control group consisted of 89 and 104 individuals, respectively. The evaluation of tinnitus was performed using the Strukturiertes Tinnitus-Interview (STI). The Tinnitus Handicap Inventory (THI) was used to evaluate the tinnitus severity. Polymerase chain reaction (PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques were used for genotyping. RESULTS: With regard to the ACE I/D polymorphism, there was no significant difference in genotype and allele frequencies between the patient group and control group. However, a statistically significant difference was found in genotype (p< 0.01) and allele frequencies (p= 0.021) of the ADD1 G460W gene polymorphism. Combined genotype analysis showed that the ACE II /ADD1 GW genotype was statistically significantly higher in the patient group than in the control group (X2: 7.15, p= 0.007). The odds ratio value of the GW genotype was 2.5 (95% CI= 1.4-4.7) (p< 0.01). CONCLUSION: Our results demonstrate an association between ADD1 G460W gene polymorphism and susceptibility to severe chronic tinnitus. It was found that the GW genotype increased the disease risk by 2.5-fold compared with other genotypes. This indicates that ADD1 G460W polymorphism could be an important factor in the pathophysiology of tinnitus.Öğe Apelin and fetuin-a may be subclinical inflammation biomarker in familial mediterranean fever: A pilot study(DERMAN MEDICAL PUBL, 2017) Sahin, Ali; Demirpence, Ozlem; Sahin, Mehtap; Bagci, Gokhan; Seven, Dogan; Dogan, Halef Okan; Camci, Ayse; Derin, Mehmet Emin; Bagci, BinnurAim: Positive acute-phase reactants generally increase during the attack period (AP) of familial Mediterranean fever (FMF) and return to normal range in the attack-free period (AFP). In some patients, the level of these acute-phase reactants does not decrease during the AFP, suggesting that subclinical vascular inflammation continues during the AFP. In the context of this Information, we tested whether apelin and fetuin-A can be used as inflammatory biomarkers in the AFP of FMF patients. Material and Method: Thirty FMF patients within AFP and thirty healthy subjects were included in this study. Serum apelin and fetuin-a levels were measured using enzyme-linked immunosorbent assay (ELISA) method. Results: The median levels of apelin were 113.07 +/- 15.9 ng/L in FMF and 307.82 +/- 52.76 ng/L in healthy subjects (p = 0.002). The median levels of fewin-A were 1352.2 +/- 127.61 ng/mL in the FMF group and 843.82 +/- 137.66 ng/mL in the control group (p= 0.009). In FMF patients, there was a significant correlation between apelin and fetuin-A levels (r=0.399; p =0.029). Furthermore, a significant inverse correlation was found between age and apelin (r= -0.499; p = 0.005), and a significant positive correlation was found between BMI and apelin (r = 0.769; p = 0.001). Additionally, a significant correlation was found between BMI and fetuin-A (r = 0.397; p = 0.030). Discussion: Lower serum apelin levels and higher fetuin-A levels were observed in FMF patients with AFP than in healthy subjects, suggesting that subclinical vascular inflammation continues during AFP in patients with FMF. Further studies with large study populations and different ethnic groups are necessary to show the role of apelin and fetuin-A in subclinical inflammation resulting from FMF.Öğe Association of MCP-1 promotor polymorphism with disease severity of Crimean-Congo hemorrhagic fever(Wiley, 2020) Bagci, Binnur; Bagci, Gokhan; Buyuktuna, Seyit Ali; Elaldi, NazifCrimean-Congo hemorrhagic fever (CCHF) is a thick-borne viral zoonotic disease. The pathogenesis and the reasons why cases have a mild or severe course in CCHF have not yet been explained. In this study, we investigated the relationship between promoter -2518 A/G single-nucleotide polymorphism (SNP) of the MCP-1 gene and the clinical course of CCHF. The MCP-1-2518 A/G SNP (rs1024611) frequency was examined in 128 virologically/serologically confirmed CCHF patients and 181 healthy controls by using the PCR-RFLP method. When CCHF patients and controls were compared, no significant difference was found between genotype distributions and allele frequencies of the -2518 A/G SNP of MCP-1 gene (P > .05). Compared to the AA genotype, both AG (P = .016; OR = 2.57) and GG genotype (P = .039; OR = 3.43) were found with significantly higher frequencies in mild/moderate cases than in severe cases. Compared to the AG + GG genotype, AA showed a significant risk for severe CCHF (60.0% vs 38.4%, P = .02; OR = 2.41). In contrast, the AG genotype showed a significant protective effect against severe disease compared to AA + GG genotype (29.1% vs 47.9%, P = .013; OR = 2.58). Compared to mild/moderate cases, the A allele was found to be significantly higher in severe cases (0.745 vs 0.623, P = .039; OR = 1.77). However, no significant relationship was found between fatal and nonfatal cases in terms of genotype or allele frequencies (P > .05). In conclusion, both -2518 AA genotype and A allele of MCP-1 were associated with disease severity, and the AG genotype had a protective effect against a severe disease course in CCHF patients.Öğe ASSOCIATION OF VITAMIN D RECEPTOR GENE POLYMORPHISM WITH ARTERIOVENOUS FISTULA THROMBOSIS IN HEMODIALYSIS PATIENTS(OXFORD UNIV PRESS, 2017) Huzmeli, Can; Bagci, Gokhan; Candan, Ferhan; Bagci, Binnur; Akkaya, Lale; Kayatas, Mansur…Öğe Association of vitamin D receptor gene Taql, Fokl and Apal variants with arteriovenous fistula failure in hemodialysis patients(SAGE PUBLICATIONS LTD, 2018) Huzmeli, Can; Bagci, Gokhan; Candan, Ferhan; Bagci, Binnur; Akkaya, Lale; Kayatas, MansurPurpose: We investigated the influence of the vitamin D receptor gene Taql (rs731236), Apal (rs7975232), and Fokl (rs2228570) polymorphisms in arteriovenous fistula failure in hemodialysis patients. Methods: This study was carried out with 54 patients who experienced two or more fistula failures in the late period after arteriovenous fistula operation and 58 control patients with no history of arteriovenous fistula failure in 3years or longer. The polymerase chain reaction-restriction fragment length polymorphism method was used to determine the vitamin D receptor Taql, Fokl, and Apal polymorphisms. Results: For vitamin D receptor gene Taql and Fokl polymorphisms, no significant association was found between the two groups (p>0.05). However, a statistically significant association was determined for Apal polymorphism between the two groups (p = 0.02). In patients, Apal AA, AC, and CC genotype frequencies were found as 21 (38.9%), 32 (59.3%), and I (1.8%), respectively. However, genotype frequencies of AA, AC, and CC in the control group were 29 (50%), 22 (37.9%), and 7 (12.1%), respectively. In all three polymorphisms, no significant difference was found between the two groups in terms of allele frequencies (p>0.05). Conclusion: Vitamin D receptor Apal AC genotype may be a possible cardiovascular risk factor for the development of arteriovenous fistula failure.Öğe Associations of fractalkine receptor (CX3CR1) and CCR5 gene variants with hypertension, diabetes and atherosclerosis in chronic renal failure patients undergoing hemodialysis(SPRINGER, 2016) Bagci, Binnur; Bagci, Gokhan; Huzmeli, Can; Sezgin, Ilhan; Ozdemir, OzturkWe aimed to investigate the associations of fractalkine receptor (CX3CR1) V249I, T280M and CCR5-59029 A/G gene polymorphisms in chronic renal failure (CRF) subjects undergoing hemodialysis and to evaluate possible associations of these polymorphisms with hypertension (HT), diabetes mellitus (DM) and atherosclerosis (AS). A total of 225 CRF subjects undergoing hemodialysis and 201 healthy controls were enrolled in the study. CRF subjects were divided into three major subgroups according to comorbidities including HT (n = 127), DM (n = 65) and AS (n = 33). Genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. The II genotype and I allele frequencies of CX3CR1 V249I polymorphism were found significantly more frequent in CRF subjects, CRF subjects with DM and CRF subjects with AS compared with controls (p < 0.05 for all comparisons). G allele frequency of CCR5 polymorphism was found significantly more prevalent in CRF subjects with DM than that of controls. Further, GG genotype and G allele frequencies of CCR5 polymorphism were significantly more prevalent in CRF subjects with AS compared with controls (p < 0.05). We also explored these polymorphisms among CRF subjects with and without following comorbidities: HT, DM, AS. We found significant association between CRF subjects with HT and without HT in terms of genotype and allele frequencies of V249I polymorphism (p < 0.05). CX3CR1 T280M polymorphism was not found significantly different in none of the comparisons. These data demonstrate possible associations between CX3CR1 V249I and CCR5-59029 A/G polymorphisms and/or HT, DM and AS in CRF subjects.Öğe CCR2 Polymorphism in Chronic Renal Failure Patients Requiring Long-Term Hemodialysis(JAPAN SOC INTERNAL MEDICINE, 2011) Sezgin, Ilhan; Koksal, Binnur; Bagci, Gokhan; Kurtulgan, Hande Kucuk; Ozdemir, OzturkObjective A number of chemokines and chemokine receptors are produced by intrinsic renal cells as well as by infiltrating cells during renal inflammation. The CCR2 chemokine receptor mediates leukocyte chemoattraction in the initiation and amplification phase of renal inflammation. The polymorphism, CCR2-V64I, changes valine 64 of CCR2 to isoleucine. We aimed to determine the frequency of CCR2-V64I polymorphism in patients with chronic renal failure requiring long-term hemodialysis. Methods and Patients The PCR-based restriction fragment length polymorphism (PCR-RFLP) technique was used to assess the gene frequencies of CCR2-641 in CRF patients (n=210) and healthy controls (n=139) in the current study. Results The frequencies of the CCR2 genotype were 0.68 for V/V, 0.28 for V/I, and 0.4 for I/I in the CRF patients and 0.81 for V/V, 018 for V/I and 0.1 for I/I in healthy controls. The distribution of the CCR2-V64I mutant genotype was significantly different between subjects with CRF and healthy control subjects (X2=7.197 and p=0.027). Conclusion We found that the CCR2-V64I polymorphism was significantly high in CRF patients. In addition to the contribution to disease pathogenesis, it was recently found that chemokines have therapeutic importance in chronic renal failure. The frequency of CCR2-V64I and other chemokine and chemokine receptor polymorphisms in renal pathologies must be further investigated in larger study populations and in different renal diseases.Öğe Chanarin-Dorfman Syndrome: A comprehensive review(Wiley, 2021) Cakmak, Erol; Bagci, GokhanThe Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.Öğe Evaluation of 61 Secondary Amyloidosis Patients: A Single-Center Experience from Turkey(DERMAN MEDICAL PUBL, 2016) Huzmeli, Can; Candan, Ferhan; Bagci, Gokhan; Alaygut, Demet; Bagci, Binnur; Yildiz, Esin; Kockara, Ayse Seker; Kayatas, MansurAim: To evaluate demographic,clinical and laboratory characteristics. causes, MEFV gene mutations, and mortality rates of patients with secondary amyloidosis. Material and Method: 61 patients who had been diagnosed with secondary amyloidosis by renal and rectal biopsy between 2007 and 2013 in the nephrology clinic of Cumhuriyet University. Faculty of Medicine, were included in the study. Demographic characteristics, causes of secondary amyloidosis, MEFV gene mutations, end-stage renal failure (ESRF), renal transplantation, and mortality rates were examined retrospectively. Results: In etiological terms, Familial Mediterranean Fever (FMF) occurrence was 62.2% (38), bronchiectasis and emphysema 9.8% (6), tuberculosis 4.9% (3), coexistence of FMF and ankylosing spondylitis 3.2% (2), coexistence of FMF and rheumatoid arthritis 1.60,6 (1), coexistence of FMF and systemic lupus erythematosus (SLE) 1.6% (1), osteomyelitis 1.6% (1). septic arthritis 1.6% (1), Crohn's disease 1.6% (1), colon cancer 1.6% (1), coexistence of bronchiect-axis and tuberculosis 1.6% (1), rheumatoid arthritis 1.6% (1), and idiopathic cases 6.5% (4). Proteinuria was determined at nephrotic level among 68% (32) of 47 patients who had secondary amyloidosis. MEFV gene mutation of 45 patients with secondary amyloidosis was assessed. Most patients had M694V gene mutation. Surprisingly, we detected heterozygous 61480 mutation in 3 cases. 12 cases died; of these, 9 had ESRF. Five cases with ESRF underwent renal transplantation. Discussion: We found FMF as the most common cause for secondary AA amyloidosis in this study. Further studies should be done with larger or multicenter cohorts.Öğe Exploring free amino acid profiles in CCHF patients: Implications for disease progression(Wiley, 2024) Buyuktuna, Seyit Ali; Yerlitas, Serra Ilayda; Zararsiz, Gozde Ertuk; Dogan, Kubra; Kablan, Demet; Bagci, Gokhan; Ozer, SeldaThis study investigated the intricate interplay between Crimean-Congo hemorrhagic fever virus (CCHFV) infection and alterations in amino acid metabolism. Our primary aim is to elucidate the impact of Crimean-Congo hemorrhagic fever (CCHF) on specific amino acid concentrations and identify potential metabolic markers associated with viral infection. One hundred ninety individuals participated in this study, comprising 115 CCHF patients, 30 CCHF negative patients, and 45 healthy controls. Liquid chromatography-tandem mass spectrometry techniques were employed to quantify amino acid concentrations. The amino acid metabolic profiles in CCHF patients exhibit substantial distinctions from those in the control group. Patients highlight distinct metabolic reprogramming, notably characterized by arginine, histidine, taurine, glutamic acid, and glutamine metabolism shifts. These changes have been associated with the underlying molecular mechanisms of the disease. Exploring novel therapeutic and diagnostic strategies addressing specific amino acids may offer potential means to mitigate the severity of the disease.Öğe Exploring free amino acid profiles in Crimean-Congo hemorrhagic fever patients: Implications for disease progression(Wiley, 2024) Buyuktuna, Seyit Ali; Yerlitas, Serra Ilayda; Zararsiz, Goezde Ertuk; Dogan, Kuebra; Kablan, Demet; Bagci, Gokhan; Ozer, SeldaThis study investigated the intricate interplay between Crimean-Congo hemorrhagic fever virus infection and alterations in amino acid metabolism. The primary aim is to elucidate the impact of Crimean-Congo hemorrhagic fever (CCHF) on specific amino acid concentrations and identify potential metabolic markers associated with viral infection. One hundred ninety individuals participated in this study, comprising 115 CCHF patients, 30 CCHF negative patients, and 45 healthy controls. Liquid chromatography-tandem mass spectrometry techniques were employed to quantify amino acid concentrations. The amino acid metabolic profiles in CCHF patients exhibit substantial distinctions from those in the control group. Patients highlight distinct metabolic reprogramming, notably characterized by arginine, histidine, taurine, glutamic acid, and glutamine metabolism shifts. These changes have been associated with the underlying molecular mechanisms of the disease. Exploring novel therapeutic and diagnostic strategies addressing specific amino acids may offer potential means to mitigate the severity of the disease.Öğe Exploring free amino acid profiles in Crimean-Congo hemorrhagic fever patients: Implications for disease progression(Wiley, 2024) Buyuktuna, Seyit Ali; Yerlitas, Serra Ilayda; Zararsiz, Gozde Ertuk; Dogan, Kubra; Kablan, Demet; Bagci, Gokhan; Ozer, SeldaThis study investigated the intricate interplay between Crimean-Congo hemorrhagic fever virus infection and alterations in amino acid metabolism. The primary aim is to elucidate the impact of Crimean-Congo hemorrhagic fever (CCHF) on specific amino acid concentrations and identify potential metabolic markers associated with viral infection. One hundred ninety individuals participated in this study, comprising 115 CCHF patients, 30 CCHF negative patients, and 45 healthy controls. Liquid chromatography-tandem mass spectrometry techniques were employed to quantify amino acid concentrations. The amino acid metabolic profiles in CCHF patients exhibit substantial distinctions from those in the control group. Patients highlight distinct metabolic reprogramming, notably characterized by arginine, histidine, taurine, glutamic acid, and glutamine metabolism shifts. These changes have been associated with the underlying molecular mechanisms of the disease. Exploring novel therapeutic and diagnostic strategies addressing specific amino acids may offer potential means to mitigate the severity of the disease.Öğe Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis(SPRINGER LONDON LTD, 2017) Huzmeli, Can; Candan, Ferhan; Bagci, Gokhan; Alaygut, Demet; Yilmaz, Ali; Gedikli, Asim; Bagci, Binnur; Timucin, Meryem; Sezgin, Ilhan; Kayatas, MansurPrimary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 +/- 13.4 (range 18-69), 35 of patients were female and 29 of patients were male. Of the 64 patients, 17 were mesangial proliferative glomerulonephritis (MsPGN), 15 were IgA nephropathy (IgAN), 12 were membranous glomerulonephritis (MGN), 11 were focal segmental glomerulosclerosis (FSGS), three were membranous proliferative glomerulonephritis (MPGN), three were immune complex glomerulonephritis (ICGN), two were minimal change disease (MCD), and one was IgM nephropathy (IgMN). MEFV gene mutation was detected in 35.9% (23) of these patients. The most frequently detected mutations were E148Q and M694V. Twelve cases (18.75% of GN patients) with MEFV gene mutation were diagnosed as FMF phenotype I. The frequency of MEFV gene mutation was detected at a high rate of 35.9%. Further studies with larger populations are needed to clarify the importance of these mutations on clinical progression of glomerulonephritis.Öğe Genetic variants in the microRNA machinery gene (Dicer) have a prognostic value in the management of endometrial cancer(WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2018) Oz, Muhammed; Karakus, Savas; Yildirim, Malik; Bagci, Binnur; Sari, Ismail; Bagci, Gokhan; Yildiz, Caglar; Akkar, Ozlem; Cetin, Ali; Yanik, AliAim: Although several associations were found between Dicer rs3742330 single nucleotide polymorphism (SNP) and development and prognosis of some epithelial cancers, relationship between the SNP rs3742330 and endometrial cancer (EC) has not yet been studied. We aimed to investigate the prognostic role of rs3742330 SNP of Dicer gene in EC patients. Subjects and Methods: A total of 80 EC patients and 80 control subjects included in the study. Real-time polymerase chain reaction and the allele discrimination technique was used for genotyping of rs3742330 SNP. Results: There was no significant difference between EC patients and control subjects with regard to the genotype and allele frequencies for Dicer rs3742330 SNP (P > 0.05). Despite Dicer rs3742330 SNP had no prognostic value in terms of stage, grade, lymphovascular invasion, myometrial invasion, tumor size, and histopathology; malignant peritoneal cytology has been detected higher in the patients bearing AA genotype compare with AG genotype (P = 0.023). Higher recurrence rate and shorter time to recurrence were found in patients bearing AG and GG genotype compare with AA genotype (P = 0.009). Conclusion: Dicer rs3742330 AG and GG genotypes may have the potential to be used as a predictor of poor prognosis in the management of EC case.Öğe Glutathione-S-Transferase Variants are not Associated With Increased Carotid Intima-Media Thickness in Turkish Familial Mediterranean Fever Patients(TURKISH LEAGUE AGAINST RHEUMATISM, 2016) Gurbuz, Ozlem; Bagci, Binnur; Huzmeli, Can; Bagci, Gokhan; Candan, FerhanObjectives: This study aims to evaluate the carotid intima-media thickness (CIMT) in patients diagnosed with familial Mediterranean fever (FMF) and investigate whether there is a relationship between glutathione-S-transferase (GST) gene polymorphisms and CIMT. Patients and methods: Sixty FMF patients (17 males, 43 females; mean age: 31.43 +/- 11.36 years; range 18 to 45 years) and 60 healthy controls (22 males, 38 females; mean age: 29.8 +/- 5.82 years; range 18 to 40 years) were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism methods were carried out to assess GST polymorphisms. CIMT was measured by carotid ultrasonography. Biochemical parameters were also evaluated using biochemical methods. Results: Right and left CIMT of FMF patients were statistically significantly higher than that of control group (CIMT right p=0.001 and CIMT left: p=0.033). There was no significant association in terms of GST polymorphisms between FMF and control groups. No significant association was observed between GST polymorphisms and CIMT. Low density lipoprotein, erythrocyte sedimentation rate, and fibrinogen levels were significantly higher in the patient group (p<0.05). The difference between groups was not significant in terms of other biochemical parameters (p>0.05). Conclusion: Although no significant association was observed between GST polymorphisms and CIMT in FMF patients and controls, CIMT was statistically significantly higher in FMF patients compared to controls.Öğe KRAS, BRAF oncogene mutations and tissue specific promoter hypermethylation of tumor suppressor SFRP2, DAPK1, MGMT, HIC1 and p16 genes in colorectal cancer patients(IOS PRESS, 2016) Bagci, Binnur; Sari, Musa; Karadayi, Kursat; Turan, Mustafa; Ozdemir, Ozturk; Bagci, GokhanBACKGROUND: Colorectal cancer is a serious disease that causes significant morbidity and mortality in developed countries. Genetic changes, such as mutations in proto-oncogenes and DNA repair genes, and loss of function in the tumor suppressor genes cause colorectal cancer development. Abnormal DNA methylation is also known to play a crucial role in colorectal carcinogenesis. OBJECTIVE: In this study, frequencies of KRAS and BRAF mutations, promoter hypermethylation profiles of SFRP2, DAPKI, MGMT, HIC1 and p16 genes, and possible associations between hypermethylation of these genes and KRAS and BRAF mutations were aimed to find out. METHODS: Ninety three colorectal cancer tissues and 14 normal colon mucosas were included in the study. Common twelve KRAS gene mutation were investigated with using reverse-hybridization strip assay method. BRAF V600E mutations were investigated with RFLP method. Hypermethylation status of five tumor suppressor genes were detected by using reverse-hybridization strip assay method after bisulfite modification of DNA. RESULTS: KRAS and BRAF mutation frequencies were determined as 54.84% and 12.9%, respectively. Promoter hypermethylation frequencies of tumor suppressor genes SFRP2, DAPK1, MGMT, HIC1 and p16 were determined as 66.7%, 45.2%, 40.9%, 40.9% and 15.1%, respectively. Statistically significant associations were found between BRAF mutation and SFRP2 and p16 tumor suppressor genes hypermethylation (SFRP2; p = 0.005, p16; p = 0.016). Compared to rectum, SFRP2 (p = 0.017) and MGMT (p = 0.013) genes have statistically significantly higher promoter hypermethylation in colon. CONCLUSIONS: Results of the current study have confirmed that KRAS mutations and SFRP2 hypermethylation can be used as genetic markers in colorectal cancer.Öğe Occult Hepatitis B Prevalence in Hepatitis B Vaccinated Dialysis Patients(TURK NEFROLOJI DIYALIZ TRANSPLANTASYON DERGISI, 2018) Huzmeli, Can; Seker, Ayse; Candan, Ferhan; Bagci, Gokhan; Akkaya, Lale; Bakici, Mustafa Zahir; Kayatas, MansurOBJECTIVE: Occult hepatitis B (OHB) virus infection is defined as the presence of hepatitis B virus (HBV) DNA in the liver tissue or serum of subjects seronegative for hepatitis B surface antigen. OHB leads to the potential risk of transmission in dialysis service. Routine HBV vaccine in dialysis patients is recommended. However, HBV vaccine response rates are lower than the community. The aim of this study was to determine the prevalence of OHB in hepatitis B vaccinated dialysis patients. MATERIAL and METHODS: This study was performed at the Nephrology Department, Faculty of Medicine, Cumhuriyet University, between 1st January -31st December 2014. Sera from 200 dialysis patients with negative HbsAg were investigated for HBV DNA using the polymerase chain reaction (PCR). RESULTS: The mean age of the patients was 59.57 +/- 14.89 (18-91) years; 179 of them were on hemodialysis and 21 were on peritoneal dialysis. Of the patients included in the study, anti-HBs positivity was present in 135 (67.5%) and anti-HBs negativity in 65 (32.5%). The OHB prevalence was 1.5% (n=3). CONCLUSION: In our study, the OHB prevalence was 1.5%. We assume that HBV infection would be reduced further by routinely applying HBV PCR tests for all patients who start dialysis and by taking precautions against transmission.Öğe Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey(SPRINGER/PLENUM PUBLISHERS, 2016) Huzmeli, Can; Candan, Ferhan; Alaygut, Demet; Bagci, Gokhan; Akkaya, Lale; Bagci, Binnur; Sozmen, Eser Yildirim; Kurtulgan, Hande Kucuk; Kayatas, MansurFabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G > T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.Öğe The protective effect of MCP-1-2518 A > G promoter polymorphism in Turkish chronic renal failure patients requiring long-term hemodialysis(SPRINGER, 2015) Bagci, Binnur; Bagci, Gokhan; Candan, Ferhan; Ozdemir, Ozturk; Sezgin, IlhanMonocyte chemoattractant protein-1 (MCP-1) plays a major role in the pathogenesis and progression of different types of human renal disease. Therefore, in this study, we aimed to investigate the effect of MCP-1 gene -2518 A > G promoter polymorphism in chronic renal failure (CRF) patients requiring long-term hemodialysis. The study population consisted of 201 adult CRF patients requiring long-term hemodialysis and 194 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for genotyping of MCP-1 -2518 A > G polymorphism in the CRF patients and healthy controls. There were statistically significant differences in terms of genotypic (chi (2) = 12.69, p = 0.02) and allelic (chi (2) = 5.72, p = 0.02) frequencies of MCP-1 -2518 A > G between CRF patients and control subjects. According to our results, in the patient group MCP-1 -2518 AA genotype frequency was significantly higher than that of control group. On the other hand, heterozygous AG genotype frequency in the control group was significantly higher than that of the study group. Three different main disease subgroups of CRF (hypertension, diabetes mellitus, and atherosclerosis) patients were also evaluated, and significant associations were found between hypertension (genotype: chi (2) = 9.28, p = 0.01; allele: chi (2) = 6.00, p = 0.01), atherosclerosis (genotype: chi (2) = 5.37, p = 0.02; allele: chi (2) = 4.13, p = 0.04), and distributions of MCP-1 -2518 A > G genotypes and alleles. However, no significant association was found between diabetes mellitus and distributions of MCP-1 -2518 A > G genotype and allele frequencies (genotype: chi (2) = 2.37, p = 0.3; allele: chi (2) = 1.88, p = 0.17). Current data show that MCP-1 -2518 AA genotype may cause susceptibility to CRF, while G allele may have a protective effect against development of CRF. In addition, MCP-1 -2518 AA genotype seems to associate with CRF originated from hypertension and atherosclerosis in our study population.
