Yazar "Candan, Ferhan" seçeneğine göre listele

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    Association between ABCB1 (MDR1) Gene 3435 C>T Polymorphism and Colchicine Unresponsiveness of FMF Patients
    (Taylor & Francis Ltd, 2011) Ozen, Filiz; Sılan, Coşkun; Uludağ, Ahmet; Candan, Ferhan; Sılan, Fatma; Ozdemir, Semra; Atik, Sinem
    The multidrug resistance gene-1 (MDR1, adenosine triphosphate-binding cassette transporter: ABCB1, P-glycoprotein) encodes membrane proteins that play a crucial role in protecting cells from xenobiotics, chemicals, and drugs. The TT genotype of 3435 codon in exon 26 of MDR1 gene causes overexpression of gene activity and effluxes many chemically diverse compounds across the plasma membrane. We studied the association between C3435T polymorphisms (single nucleotide polymorphism) of MDR1 gene and colchicine-resistant familial Mediterranean fever (FMF) patients. Total genomic DNA samples from 52 FMF patients of colchicine unresponsiveness were used for FMF (MEFV) and MDR1 genes profile analyses. Target genes were genotyped by multiplex PCR-based reverse-hybridization Strip Assay method. The preliminary current results showed increased T allele frequency (0.596) in colchicine unresponsiveness of FMF patients. The distributions of the CC, CT, and TT genotypes in colchicine nonresponder FMF patients were 17%, 46%, and 37%, respectively. Our results indicate that C3435T polymorphism in exon 26 of MDR1 gene is associated with colchicine resistance in nonresponder FMF patients during the common therapy protocol.
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    Öğe
    Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
    (Springer, 2011) Özdemir, Öztürk; Sezgin, Ilhan; Kurtulgan, Hande Kucuk; Candan, Ferhan; Koksal, Binnur; Sumer, Haldun; Icagasioglu, Dilara
    The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.
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    Öğe
    The CYP4502D6*4 and*6 alleles are the molecular genetic markers for drug response: implications in colchicine non-responder FMF patients
    (Springer France, 2016) Yalcintepe, Sinem; Özdemir, Öztürk; Sılan, Coşkun; Ozen, Filiz; Uludağ, Ahmet; Candan, Ferhan; Sılan, Fatma
    The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups of extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes due to their drug-metabolising ability for the target CYP2D6 gene. Colchicine non-responsive FMF patients were prospectively genotyped for the major CYP2D6 alleles in the current study. Major CYP2D6 alleles of *1, *3, *4, *5, and *6 were genotyped for 30 responsive and 60 non-responsive FMF patients by multiplex PCR-based reverse-hybridization StripAssay and real-time PCR methods. DNA banks isolated from blood-EDTA were retrospectively used in the current patients and results were compared statistically. Increased CYP2D6 *4 and *6 allele frequencies were highly detected in the colchicine non-responsive FMF patients when compared to the responsive group. Results showed the frequencies of major CYP2D6 *1(wild), *3(2637A > delA), *4(G1934A), *5(total gene deletion) and *6(1707T del) alleles in 0.550, 0.042, 0.158, 0.025 and 0.225 for non-responder and 0.880 and 0.120 (CYP2D6*1 and *4) for the responder groups, respectively. Despite small sample size, this study suggests that there is an association between CYP2D6*4 and CYP2D6*6 alleles and drug intoxicants in colchicine non-responder FMF patients.
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    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; Özdemir, Öztürk; Sezgin, Ilhan
    Monocyte 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.