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Öğe 308G/A and 238G/A polymorphisms in the TNF-? gene may not contribute to the risk of arthritis among Turkish psoriatic patients(Elsevier Science Bv, 2016) Isik, Selda; Sılan, Fatma; Kilic, Sevilay; Hiz, Meliha Merve; Ogretmen, Zerrin; Özdemir, ÖztürkIntroduction: Tumor necrosis factor-alpha (TNF-alpha) is an important proinflammatory cytokine playing a key role in the pathogenesis of psoriasis (Ps) and psoriatic arthritis (PsA). TNF alpha gene promoter region single nucleotide polymorphisms (SNPs) affect the clinical course, severity and the response to the treatment. Aim of the work: To find out whether TNF-alpha-238G/A and -308G/A promoter polymorphism in Ps patients increases arthritis risk. Patients and methods: The study included 129 psoriatic patients (71 with psoriasis only and 58 with PsA). Two single nucleotide polymorphisms in the TNF alpha gene promoter region (238G/A and -308G/A) were genotyped by real-time polymerase chain reaction. Results: Ps patients without arthritis had a mean age of 44.20 +/- 13.85 years (range 18-68 years), while PsA patients had a mean age of 49.15 +/- 13.47 years (range 18-82 years) and presented by dactylitis (67.2%), enthesitis (62.1%) followed by spondylitis (60.3%). Periosteal reaction was present in 19%. The psoriatic arthritis severity index (PASI) was comparable between those with (8.2 +/- 7.1) and without (7.3 +/- 5.12.1) arthritis. The allele positivity of TNF-238A and -308A was not associated with the risk of arthritis among psoriatic patients (OR: 1.002; 95% CI: 0.38-2.6, p=0.99 and OR: 1.27; 95% CI: 0.51-3.2, p=0.6, respectively). In addition, none of the genotypes of the studied TNF-alpha polymorphisms were significantly associated with arthritis. Only spondylitis was significantly associated more frequently with the GG (67.3%) than the GA (22.2%) TNF-alpha-308G/A genotype (p=0.02). Conclusion: None of the haplotypes nor alleles of TNF-alpha-238G/A and -308G/A polymorphisms were significantly associated with arthritis development among psoriatic patients. (C) 2016 Egyptian Society of Rheumatic Diseases. Publishing services provided by Elsevier B.V.Öğe A balanced non-reciprocal translocated case with recurrent abortions: The importance and validity of conventional cytogenetics analysis in balanced translocations detection when comparing to the MicroArray-CGH technique(Elsevier Science Bv, 2017) Özdemir, Öztürk; Urfali, Mine; Paksoy, Baris; Karakaya, Taner; Yildiz, Onur; Sılan, Fatma[Anstract Not Available]Öğe A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome(Elsevier Science Bv, 2018) Bir, Firdevs Dincsoy; Özdemir, Öztürk; Karakaya, Taner; Yildiz, Onur; Sılan, Fatma[Anstract Not Available]Öğe A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype-phenotype correlation in a case report(Elsevier Science Bv, 2017) Sılan, Fatma; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Özdemir, Öztürk[Anstract Not Available]Öğe A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation(Karger, 2022) Dincsoy Bir, Firdevs; Sılan, Fatma; Velickovic, Jelena; Berkay Akcan, Mehmet; Özdemir, ÖztürkThe chromosome 10q22.3q23.2 deletion syndrome is characterized by craniofacial dysmorphic features, developmental delay, congenital heart defect, and hand/foot abnormalities. In this study, we report a patient carrying a microdeletion of 7.5 Mb at 10q22.3q23.2 and in addition a mosaicism mos 47,XXY[47]/46,XY[23].This male patient was 3 years and 3 months years old at the time of genetic evaluation. Atrial ventricular septal defect (AVSD), mild hypotonia, torticollis, and left-sided club foot were noticed after birth. The boy had surgical correction of the AVSD and the club foot. His dysmorphic features were frontal bossing, overfolded ear helix, hypertelorism, epicanthal folds, broad base of nose, flat nasal bridge, full cheeks, thick lips, micrognathia, and joint hyperextensibility. His speech/language development was delayed. Klinefelter syndrome is one of the most common congenital chromosomal abnormalities, but usually it is detected in puberty or in adulthood when reproductive failure occurs. Deletions in the 10q22.3q23.2 region are rare, and previously only a few numbers of cases were described with this microdeletion, but none of them together with Klinefelter syndrome and it could be associated with our case clinical features. The new case described will improve understanding the phenotype associated with 10q22.3q23.2 microdeletions. By presenting this case, we aimed to improve the understanding of the phenotype caused by the rare 10q22.3q23.2 deletion and to show the rare coexistence of this deletion with Klinefelter syndrome.Öğe A New Mutation, Hb A2-Canakkale [?10(A7)Ala?Val; HBD: c.32C>T], and Other Well-Known ? Variants Identified in a Selected Cohort with Low Hb A2 Levels(Taylor & Francis Ltd, 2022) Karakaya, Taner; Sılan, Fatma; Özdemir, ÖztürkHemoglobinopathies are the most common single-gene disorders, and beta-thalassemia (beta-thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is obligatory in Turkey, as it is in some other countries. As a result of this mandatory procedure, at routine clinical checkups, many individuals who had undergone premarital screening but did not have any clinical symptoms and/or hematological findings, have compulsorily been required to undergo further evaluation due to abnormal levels of hemoglobin (Hb) fractions (Hb A, Hb A(2) and Hb F). Many consequences, such as mutations in unrelated gene(s) or someone's nutritional status, have been reported to affect the Hb fractions levels. In the present study, we aimed to determine whether HBD has a molecular causative role in patients with low Hb A(2) levels (below 1.8%). The study was conducted with 20 individuals with low Hb A(2) levels who had applied to our outpatient clinic. All DNA samples were analyzed for the HBD gene. Nineteen of the 20 subjects were diagnosed to carry a mutation with one of four different delta-globin variants. Three of them had been described previously [Hb A(2)-Yialousa (HBD: c.82G>T), Hb A(2)-Bornova (HBD: c.350G>C) and Hb A(2)-Yokoshima (HBD: c.77G>A)]. The novel [delta 10(A7)Ala -> Val, HBD: c.32C>T] mutation was defined as a new delta variant and reported to the HbVar database as Hb A(2)-Canakkale. In conclusion, the molecular characterization of Hb A(2) low levels has been suggested to be significant for a definite diagnosis and counseling.Öğe Aldosterone Synthase CYP11B2 Gene Promoter Polymorphism in a Turkish Population With Chronic Kidney Disease(Iranian Soc Nephrolgy, 2015) Yilmaz, Meral; Sari, Ismail; Bagci, Binnur; Gumus, Erkan; Özdemir, ÖztürkIntroduction. It has been shown that gene polymorphisms influence the development and progression of chronic kidney disease (CKD). Many studies have indicated that aldosterone synthase CYP11B2 gene polymorphism (-344C>T) influences the aldosterone level, urinary aldosterone excretion, blood pressure, and left ventricular size and mass. We aimed to investigate whether there is an effect of CYP11B2 -344C>T polymorphism on the development of CKD in a Turkish population. Material and Methods. A total of 240 patients with stage 5 CKD and 240 age- and sex-matched healthy individuals were included in the study. Genotyping of CYP11B2 gene -344 T>C promoter polymorphism was carried out using polymerase chain reaction and restriction fragment length polymorphism methods. Results. No significant differences were found in the genotype distribution of CYP11B2 -344 C>T polymorphism between the patients and controls; however, -344 C>T polymorphism was significantly more frequent among the CKD patients with diabetes mellitus as compared to those with it (P = .02). Diabetic CKD patients with TC genotype had a 2-fold increased risk for development of the disease than the CKD patients without diabetes mellitus (odds ratio, 2.21; 95% confidence interval, 1.04 to 4.67). Conclusions. Our study suggests that the CYP11B2 gene -344 C>T polymorphism may have an effect on the development of CKD in diabetic patients.Öğe Alterations in Promoter Methylation Status of Tumor Suppressor HIC1, SFRP2, and DAPK1 Genes in Prostate Carcinomas(Mary Ann Liebert, Inc, 2012) Kilinc, Devran; Özdemir, Öztürk; Ozdemir, Semra; Korgali, Esat; Koksal, Binnur; Uslu, Atilla; Gultekin, Yener E.Hypermethylated genomic DNA is a common feature in tumoral tissues, although the prevalence of this modification remains poorly understood. We aimed to determine the frequency of five tumor suppressor (TS) genes in prostate cancer and the correlation between promoter hypermethylation of these genes and low and high grade of prostate carcinomas. A total of 30 prostate tumor specimens were investigated for promoter methylation status of TS hypermethylated in cancer 1 (HIC1), death-associated protein kinase 1 (DAPK1), secreted frizzled-related protein 2 (SFRP2), cyclin-dependent kinase inhibitor 2A (p16), and O-6-methylguanine-DNA methyltransferase (MGMT) genes by using bisulfite modifying method. A high frequency of promoter hypermethylation was found in HIC1 (70.9%), SFRP2 (58.3%), and DAPK1 (33.3%) genes in tumor samples that were examined. The current data show high frequency of hypermethylation changes in HIC1, SFRP2, and DAPK1 genes in prostate carcinomas of high Gleason Score (GS).Öğe Alterations in the telomere length distribution of cell-free DNA in human cancer(Elsevier Science Bv, 2016) Urfali, Mine; Sılan, Fatma; Tan, Yusuf Ziya; Celiker, Fatmanur; Guler, Zeliha; Özdemir, Öztürk[Anstract Not Available]Öğe An infertile case of 47,XYY syndrome without autistic spectrum: Cost effective well-define of extra Y chromosome by GTG, C bandings, QF-PCR and FISH analyses(2016) Özdemir, Öztürk; Paksoy, Barış; Gürgen, Atilla; Oruç, Mine; Yıldız, Onur; Uysal, Diğdem; Uludağ, AhmetOtistik spektrum bozukluklarının, otozomal ve seks kromozom bozukluklukları ile birlikteliği birçok kez rapor edilmekle birlikte sınırlı sayıda literatür bilgisi Y kromozomunu işaret etmektedir. Biz bu sunumda sitogenetik ve moleküler genetik tekniklerinin birlikte kullanımı ile otistik bulguları olmayan bir super-erkek olgunun doğru ve etkin tanı almasının önemini raporlamayı amaçladık. Bu olguda, lenfosit hücre kültürü ile elde edilen metafaz örnekleri GTG, C bantlama, QF-PCR ve FISH yöntemleri ile otomatik karyotiplemeleri yapıldı. Dil ve sosyal işlev bozuklukları gibi otistik spektrum bulguları olmayan olgumuzun sitogenetik ve moleküler genetik analizler sonrasında ekstra Y kromozomu taşıdığı ve 47,XYY(super-erkek) karyotipinde olduğu anlaşılmıştır. Olgunun, yapılan ayrıntılı karyotip analizinde başka bir sayısal ve/veya yapısal kromozom anomalisine rastlanmamıştır. Olgunun sahip olduğu ekstra Y kromozomu, GTG, C bantlama, FISH ve QF-PCR teknikleri birlikte kullanılarak hastanın etkin ve doğru tanı alması sağlanmıştır. Olguda saptanan her iki Y kromozomun benzer boyut ve C bant paterninde olması, ekstra Y kromozomun yine babadan gelen normal Y kromozomun zigot sonrası endoredublikasyonundan kaynaklanabileceği tartışılmıştır.Öğe Are P-glycoprotein (ABCB1/MDR1) and endothelial nitric oxide synthase (eNOS) polymorphisms related to severity of the coronary artery disease?(Selçuk BAŞAK, 2022) Öztürk, Ufuk; Gazi, Emine; Özdemir, ÖztürkBackground/Aim: Atherosclerotic cardiovascular disease is one of the most common causes of morbidity and mortality in developed countries. Genetic and environmental factors are associated with atherosclerosis development. Some single nucleotide polymorphisms have also been directly related to atherosclerosis, for example, polymorphisms that reduce nitric oxide (NO) levels and/or activity have been linked to atherosclerotic diseases. However, the multidrug resistance gene 1 (MDR-1) polymorphism is related to repeated cardiovascular events. This study aimed to investigate the relationship between MDR-1 and endothelial NO synthase (e-NOS) polymorphism and severe coronary artery disease (CAD). Methods: In total, 90 patients presenting with acute coronary syndrome were included in this cross-sectional study. Patients with at least > 70% stenosis in ≥ 2 coronary vessels were defined as severe CAD (Group 1), while those with this same level of involvement in < 2 vessels were diagnosed with single-vessel disease (Group 2). MDR 3435C-T and eNOS T-786C were determined by polymerase chain reaction (PCR) amplification. Comparison of parametric and nonparametric values between the two groups was performed using the Student’s t- or Mann–Whitney U test. Categorical variables were analyzed using the χ2 test. Risk estimations for the association of severe CAD with the polymorphisms were calculated using odds ratio (OR) and 95% confidence intervals by comparing the genotypic combinations. Results: Baseline demographic parameters were similar in both groups, except for the presence of DM and glucose level. T allele of MDR was 42% and 40% in groups 1 and 2, respectively (OR = 1.12). The C allele of eNOS was 34% and 30% in groups 1 and 2, respectively (OR = 1.16). Fourteen and 15 patients (40% and 27%, respectively) had both T and C alleles in patients in groups 1 and 2, respectively (OR = 1.77). All P-values were > 0.05. Conclusion: This study is the first one that shows that MDR1 and e-NOS polymorphisms are frequent in patients with ≥ 2 vessel disease and may be associated with severe CAD.Öğe Assessment of BMP-6 polymorphism and relationship with disease activity in Ankylosing Spondylitis patients(Elsevier Science Bv, 2016) Oztopuz, R. Ozlem; Sılan, Fatma; Akbal, Ayla; Coskun, Ozlem; Özdemir, Öztürk[Anstract Not Available]Öğe Association Between ABCB1 (MDR1) Gene Polymorphism and Unresponsiveness Combined Therapy in Chronic Hepatitis C virus(Kowsar Publ, 2013) Timucin, Meryem; Alagozlu, Hakan; Ozdemir, Semra; Özdemir, ÖztürkBackground: To treat viral infection of chronic hepatitis C (CHC) is a main strategy to prevent progression of liver disease, and cancer. Some patients with CHC have failed to respond to the common antiviral therapy in different populations. Objectives: In the current study it was aimed to find out the possible role of multiple drug resistance gene1 (MDR1) in non-responder patients with CHC infection in Turkish population. Patients and Methods: Peripheral blood-EDTA samples were used for total genomic DNA isolation. In total of 55 patients with chronic hepatitis C and positive results for genotype 1 [31 male (56.4%), 24 female (43.6%) and mean age-min-max; 56.9 +/- 9.66 (39-71)]; 19 responder (34.5%), 21 non responder (38.2%), and 15 recurrence (27.3%) were included in the presented results. Functional MDR1 gene was genotyped by multiplex PCR-based reverse-hybridization Strip Assay method, and some samples were confirmed by direct sequencing. Results: Our results indicate that MDR1 gene polymorphism is strongly associated with non-responder patients and those with recurrent chronic hepatitis C during conventional drug therapy when compared to the responder patients. Homozygous of the TT genotype for MDR1 exon 26 polymorphism was at 2.0-fold higher risk of non-responder than patients with CC and CT. Conclusions: The homozygous MDR1 3435TT genotype which encodes the xenobiotic transporter P-glycoprotein may be associated with a poor antiviral response in HCV chronicity during conventional therapy, and large-scale studies are needed to validate this association.Öğe Association of endothelial nitric oxide synthase Glu298Asp gene polymorphism in psoriasis cases with hypertension(K Faisal Spec Hosp Res Centre, 2014) Ogretmen, Zerrin; Hiz, Meliha Merve; Sılan, Fatma; Uludağ, Ahmet; Özdemir, ÖztürkBACKGROUND AND OBJECTIVES: Psoriasis is a common autoimmune-mediated chronic, inflammatory skin disease. Although, the molecular mechanism is not completely understood, psoriasis is caused by genetic and non-genetic parameters. The current study aimed (1) to define genotype and allele frequency of endothelial nitric oxide synthase (eNOS Glu298Asp) gene polymorphism in hypertensive and/or non-hypertensive psoriatic patients (2) to investigate the possible relationship between the eNOS Glu298Asp polymorphism and the risk of hypertension among psoriatic patients in the Turkish population. DESIGN AND SETTINGS: This cross-sectional, case-control study was performed between March 2010 and November 2012 at the University hospital in Canakkale, Turkey PATIENTS AND METHODS: Gene profiles of 75 psoriatic patients (21 hypertensive and 54 normotensive patients) and 55 healthy (normotensive and non-psoriatic) volunteers were compared. Peripheral blood-EDTA samples were used for total genomic DNA isolation and genotyping. Target eNOS gene was genotyped for patients and control groups by real-time PCR melting-curve analysis system (LightCycler 2.0, Roche, Germany, and results were compared statistically. RESULTS: An increased T allele frequency in eNOS Glu298Asp single-nucleotide polymorphism (SNP) was determined in psoriatic patients when compared with normotensive non-psoriatic healthy volunteers (OR 2.3, CI 1.14-3.99), (P=.017). The T allele frequency was also found to be increased in hypertensive psoriatic patients when compared with healthy volunteers (4.83-fold increased, 95% CI 1.62-14.43 ([P=.003]) and normotensive psoriatic patients (3.03-fold increased, 95% CI 1.03-8.94 [P=.041]), respectively. CONCLUSION: The current preliminary results suggested that there was a correlation between eNOS Glu298Asp polymorphism and hypertension among psoriatic patients in the Turkish population. The T allele frequency of eNOS Glu298Asp SNP was different in hypertensive psoriatic patients, and the difference was statistically significant when compared with the normotensive psoriatic patients and healthy controls. These results need to be confirmed by large-scale studies.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; Özdemir, ÖztürkWe 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 Bcii-RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis(Taylor & Francis Ltd, 2015) Özdemir, Öztürk; Kayatas, Mansur; Cetinkaya, Selma; Yildirim, Malik Ejder; Sılan, Fatma; Kurtulgan, Hande Kucuk; Koksal, BinnurBackground and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BcII-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p < 0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (chi(2) : 13.18; p = 0.000). Conclusions: The current results indicate the germline mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.Öğe Blau syndrome with a rare mutation in exon 9 of NOD2 gene(Taylor & Francis Ltd, 2019) Velickovic, Jelena; Sılan, Fatma; Bir, Firdevs Dincsoy; Sılan, Coşkun; Albuz, Burcu; Özdemir, ÖztürkBlau syndrome is an autosomal dominant rare disease caused by mutations in NOD2 gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind (TM) AIPassay. NGS analysis showed 107 variants in in the index case, mainly benign with no strong association with Blau syndrome. Additionally, we identified one very rare missense mutation in NOD2 gene (c2803G>A, p.Val935Met) and in silico assessment of the mutation indicated possible pathogenic significance and strong association with Blau syndrome. In addition, we analyzed family members of the index case and identified the same mutation in NOD2 gene. The segregation analysis shows the presence of the same mutant allele in NOD2 gene in the index case affected sister, as well as in her son with arthralgia, while in her non affecter brother we didn't detect the Val935Met mutation in NOD2 gene. Blau Syndrome is known as a very rare disease, mainly caused by mutations in NOD2 gene. Missense mutation diagnosed in our case could be responsible for the phenotype of the index case. Our results indicate the importance of NGS testing and its major role in the detection of rare mutations that may responsible for the onset of autoinflammatory disorders.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; Özdemir, ÖztürkObjective 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 Clinical and molecular characterization of SLC7A gene that located in 14q11.2 locus in a seconder infertile rare case with lysinuric protein intolerance(Elsevier Science Bv, 2017) Sılan, Fatma; Paksoy, Baris; Urfali, Mine; Karakaya, Taner; Özdemir, Öztürk[Anstract Not Available]Öğe Combined Effect of Factor V Leiden, MTHFR, and Angiotensin-Converting Enzyme (Insertion/Deletion) Gene Mutations in Hypertensive Adult Individuals: A Population-Based Study from Sivas and Canakkale, Turkey(Mary Ann Liebert, Inc, 2011) Demirel, Yeltekin; Dogan, Sezai; Uludağ, Ahmet; Sılan, Coşkun; Atik, Sinem; Sılan, Fatma; Özdemir, ÖztürkBackground: Hypertension is one of the leading causes of mortality and morbidity in the world, which is influenced by environmental and genetic factors. The methylenetetrahydrofolate reductase (MTHFR) and angiotensin-converting enzymes (ACE) are possible candidate genes that may influence both body fatness and blood pressure (BP). The purpose of this study was to examine the carriage of gene combinations of the ACE (insertion/deletion [I/D]), MTHFR 677T and 1298C, and lipid profiles in patients with essential hypertension (EH) in Turkey. Methods: A total of 150 adult individuals (50 hypertensive, 50 first-degree relatives, and 50 healthy controls) from Sivas/Turkey with the same age and gender were assessed for body composition, lipid profiles, resting BP, and gene profiles. Additionally, 149 individuals (99 hypertensive, 50 controls) from Canakkale/Turkey had been investigated for ACE I/D polymorphism. Peripheral blood samples were genotyped using strip assay reverse-hybridization multiplex polymerase chain reaction tests for target genes. Results: Heterozygous mutation in FV Leiden was found to be higher in the hypertensive and first-degree relatives when compared with the control group (p < 0.05). Homozygous DD alleles of the ACE gene were also higher than the ACE I/D and control groups (p < 0.05). The high rates of cholesterol and low-density lipoprotein and low rates of high-density lipoprotein were found in patients with EH when compared with the control. Conclusion: Results show that ACE with DD alleles and mutated alleles of FV Leiden and MTHFR genes were significantly different between genotypes and have a combined effect on EH in Turkish population. Further studies are needed to investigate the genetics of obesity, EH, and BP phenotypes in the current adult population.
