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Öğe CAG polymorphism in the androgen receptor gene in women may be associated with nodulocystic acne(Termedia Publishing House Ltd, 2019) Demirkan, Serkan; Sayin, Derya Beyza; Gunduz, OzgurIntroduction: Acne vulgaris (AV) is a multifactorial, inflammatory disease of the pilosebaceous unit. Hormones play a major role in the pathogenesis of acne. In cases of hyperandrogenism; hirsutism, acne, seborrhoea and alopecia appear in women. However, severe acne can also be seen without evidence of hyperandrogenism. In this case, hypersensitivity of the androgen receptor gene (ARG) encoded in the X chromosome, which is the only receptor for androgens, can be considered. ARG contains a polymorphic CAG triple loop encoding the polyglutamine pathway at the 5'end of exon 1. Aim: To investigate CAG repeat polymorphism in the ARG in nodulocystic acne patients in Turkish population. Material and methods: This prospective clinical study was conducted between 2016 and 2017 in accordance with the tenets of the Declaration of Helsinki. DNA isolation from blood was performed using the RTA (R) Genomic DNA Isolation Kit. The fragment lengths obtained from the device to determine CAG repeat numbers were analysed based on -288 bp length 22 CAG repeat content. Results: A total of 199 subjects; 100 patients (51 males, 49 females) and 99 controls (49 males, 50 females) were included in the study. The mean allele length in the patient group was 19.34; and 19.7 in the control group. There was a statistically significant difference between female patients and the control group, when the patients and control groups were compared by gender (p = 0.0059). Conclusions: The CAG trinucleotide repeat count in the ARG may be associated with acne, without hirsutism findings.Öğe Interleukin (IL)-17F (H161R) and IL-23R (R381Q) Gene Polymorphisms in Turkish Population with Periodontitis(Amber Publication, 2015) Erdemir, Ebru Olgun; Hendek, Meltem Karsiyaka; Kocakap, Derya Beyza Sayin; Ozkan, Serdar YucelBackground: Periodontitis is triggered by periodontal pathogens and influenced by environmental and genetic factors. Genes encoding molecules related to the immune response are the main candidates for polymorphisms analysis and may be possibly associated with this pathology. Aim: The aim of the study was to evaluate the interleukin (IL)-17F Histidine161Arginine (H161R) and IL-23R Arginine381Glycine (R381Q) gene polymorphisms in patients with periodontitis in Turkish population. Materials and Methods: 90 periodontally healthy, 90 patients with chronic periodontitis and 57 patients with generalized aggressive periodontitis were included in the study. Participants were identified through clinical examinations and radiographs. DNA was isolated from venous blood samples from each patient and genotype analyses were made for single nucleotide polymorphisms (SNPs). Data were analyzed using the x(2) test. Results: The comparison of allelic, genotypic frequencies of the IL-17F (H161R) and IL-23R (R381Q) polymorphisms revealed no significant differences between the periodontally healthy individuals and patients with periodontal diseases. Conclusion: On the basis of the present findings, it can be suggested that IL-17F gene (H161R) and IL-23R gene (R381Q) polymorphisms are not associated with the susceptibility to periodontitis in Turkish population.Öğe The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey(Springer, 2014) Kocakap, Derya Beyza Sayin; Gunel-Ozcan, Aysen; Cabuk, Feryal; Ensari, CuneytIn this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to KA +/- rA +/- kkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey's mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations were M694V (14.8 %), E148Q (7.1 %) and M680I(G/C) (4.1 %) in accordance with the literature. We have also investigated R202Q in our routine molecular diagnosis. Mutation causing R202Q (c.605G > A) change was described as a frequent polymorphism and G allele was found in linkage disequilibrium (LD) with M694V. There are limited number of studies investigating R202Q, some of them implicate that its homozygote state is disease causing. We showed the high frequency of R202Q (23.7 %) with and without M694V in all the groups analysed and its high LD rate with M694V in the diagnosed group. Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.Öğe MEFV gene mutations in Henoch- Schonlein purpura(Wiley, 2013) Altug, Umut; Ensari, Cuneyt; Sayin, Derya B.; Ensari, ArzuAimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schonlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association. In the present study, the mutation rate of the MEFV gene in HSP and its association with the clinical course of the disease were evaluated. MethodThe study group comprised 68 children (36 boys and 32 girls) diagnosed as having HSP. The spectrum and degree of organ involvement and the levels of serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were documented for each patient. Allele-specific PCR using oligonucleotide probes which include 12 MEFV mutations (E148Q, P369S, F479L, M680I [G/C], M680I [G/A], I692del, M694V, M694I, K695R, V726A, A744S, R761H) were used for mutation analysis. ResultsOf the 68 patients studied, 50 (74%) showed no mutation, while 18 (26%) had MEFV mutation. Mutation analysis of the whole group revealed that 15 (22%) patients were heterozygous for one of the screened MEFV mutations, while three (4.5%) patients were compound heterozygous for two of the studied mutations, and one (1.5%) patient was homozygous for E148Q/E148Q mutations. Gastrointestinal and joint involvement, and edema were more frequently observed in patients with MEFV mutations, while ESR and CRP levels were significantly higher (P<0.05) in patients with MEFV mutations. ConclusionMEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients.Öğe Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction(Oxford Univ Press, 2010) Jenkins, Dagan; Caubit, Xavier; Dimovski, Aleksandar; Matevska, Nadica; Lye, Claire M.; Cabuk, Feryal; Woolf, Adrian S.Methods. Given the phenotype of Tshz3 mutant mice, we considered that Teashirt genes, which code for a family of transcription factors, might represent candidate genes for human PUJO. To evaluate this possibility, we used in situ hydridization to analyse the three mammalian Tshz genes in mouse embryonic ureters and determined whether TSHZ3 was expressed in the human embryonic ureter. TSHZ2 and TSHZ3 were sequenced in index cases with non-syndromic PUJO. Results. Tshz2 and Tshz3 genes were detected in mouse ureters and TSHZ3 was expressed in the human embryonic renal pelvis. Direct sequencing of TSHZ2 and TSHZ3 did not identify any mutations in an initial cohort of 48 PUJO index cases, excluding these genes as a major cause of this condition. A polymorphic missense change (E469G) in TSHZ3 was identified at a residue highly conserved throughout evolution in all Teashirt proteins, although subsequently no significant difference between the E469G allele frequency in Albanian and Macedonian PUJO index cases (3.2%) versus 633 control individuals (1.7%) was found (P = 0.18). Conclusions. Mutations in TSHZ2 and TSHZ3 are not a major cause of PUJO, at least in Albanian and Macedonian populations. Expression of these genes in the human fetal ureter emphasizes the importance of analysing these genes in other groups of patients with renal tract malformations.Öğe Hereditary haemochromatosis gene (HFE) H63D mutation shows an association with abnormal sperm motility(Springer, 2009) Gunel-Ozcan, Aysen; Basar, M. Murad; Kisa, Ucler; Ankarali, Handan C.The aim of this study was to screen infertile men for HFE H63D mutation in correlation with clinical characteristics of infertile men (sperm concentration, sperm motility, morphology, testicular volume, Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH) and total Testosterone levels) and find out if the HFE H63D mutation has an effect on male infertility. After excluding hormonal treatment, any scrotal pathology, having any systemic diseases such as diabetes mellitus, sickle cell anemia and microdeletions of the Y chromosome, a total of 148 infertile men with age range between 17 and 52-years-old (average age 29.6 +/- A 7.2) were enrolled into the study. Our analysis indicates that the mean FSH levels are significantly higher (6.3 +/- A 4.6 mIU/ml, P = 0.03), whereas sperm motility is significantly lower (36.6 +/- A 28.1%, P = 0.01) in the infertile men with the HFE H63D mutation compared with subjects lacking this mutation. Comparison of allele frequencies of the infertile men with Ts < 50% versus the infertile men with Ts > 50% revealed a significant difference as expected (P = 0.001, OR = 0.14, %95 CI = 0.04-0.44). Comparison of allele frequencies of infertile men with abnormal sperm motility versus infertile men with normal sperm motility revealed a highly significant difference (P = 0.005, OR = 3.11, %95 CI = 1.41-6.86). Thus, the HFE H63D mutation seems to be an important risk factor for impaired sperm motility and is clinically associated with male infertility.Öğe The effect of the angiotensin-converting enzyme gene polymorphism on the depression and anxiety levels(Cumhuriyet Univ Tip Fak Psikiyatri Anabilim Dali, 2009) Ozen, Nurper Erberk; Kocak, Orhan Murat; Dogru, Tolga; Sayin, D. BeyzaObjective: We aimed to investigate the relationship between the angiotensin-converting enzyme (ACE) gene insertion (I) and deletion (D) polymorphism and the levels of anxiety and depression. Methods: This is a cross-sectional study, which included the cases who admitted a university hospital cardiology department with the complaint of chest pain without cardiac etiology. It is well known that there is a strong connection between the ACE and hypertension (HT) and coronary arterial diseases (CAH) among peripheral mechanisms. Hence, the subjects included the study were preferred that have no cardiovascular diseases at that time. In this way, it was aimed to conclude that ACE might have an effect on the levels of the anxiety and depression via possible central mechanisms. The study group, which was total 39 patients, was constituted that 26 female with the mean age 51.92 +/- 9.78 and 13 male with the mean age 49.77 +/- 10.01. Their first examination was carried out in cardiology department and performed the necessary techniques. Then the subjects were given the Beck Depression Inventory and Beck Anxiety Inventory in psychiatry department. Serum samples of the group were transferred to genetic laboratory. The statistical analyses were performed by SPSS 15.0 for Windows. MANOVA, Post Hoc Bonferroni Test, Kruskal Wallis Test and Fischer's Exact Test were used with a related manner. Results: It was found that DID polymorphism that is related with the high ACE activity has a significant association between I/I polymorphism that is related with the low ACE activity and D/I polymorphism that is related with the moderate ACE activity in terms of BDI scores (p=0.010 and p=0.030, respectively). On the other hand, in the BAI scores, DID polymorphism was seen to be a significant association only with I/I polymorphism (p=0.002). Conclusion: It is well established that the ACE gene D polymorphism could be associated with the essential hypertension in the human. In our study, significant relation with the D genotyping and the levels of depression and anxiety were observed in a group, which have no cardiovascular problem detected. It could be suggested that the effect of the ACE system on the arterial pressure may have a role in a different manner from the central mechanisms which may be related the anxiety and depression etiology. (Anatolian Journal of Psychiatry 2009; 10:181-186)Öğe Adhesion of beta1 integrin to fibronectin regulates CAM-DR phenotype via p21(WAF1/cip1) in HL60 acute myeloid leukemia (AML) cells(Tubitak Scientific & Technical Research Council Turkey, 2008) Canpinar, Hande; Esendagli, Gunes; Kansu, Emin; Ozcan, Aysen Gunel; Guc, DicleAims: Drug resistance is a major obstacle for a successful cancer therapy. Cell adhesion mediated drug resistance (CAM-DR) is a novel type of drug resistance and generated via interaction of cancer cells with the microenvironment. In this study, CAM-DR phenotype was analyzed in HL60 acute myeloid leukemia (AML) cells. Materials and Methods: Fibronectin (FN) adherence of HL60 cells was tested by a colorimetric adhesion assay. Flow cytometry analyses were performed to evaluate doxorubicin-incluced apoptosis and to determine cell cycle status. Proliferation rate was evaluated by [H-3]-thymidine incorporation assay. Western blot and RTPCR were used for analysis of the factors involved in cell cycle control. Results: Binding of HL60 to FN via alpha 4 beta 1 and alpha 5 beta 1 integrins exerted a CAM-DR phenotype, which shows resistance to apoptosis triggered by doxorubicin. FN-adherent HL60 cells accumulated in the G(0)/G(1) phase of cell cycle and stopped proliferation. However, after detachment from FN, cells entered S phase, proliferated, and became sensitive to apoptosis. The analysis of the factors involved in the G(0)/G(1) cell cycle checkpoint showed that CAM-DR phenotype might be regulated mainly by p21(waf/cip). Conclusions: Here we showed that CAM-DR may also represent a reversible drug resistance mechanism that decreases apoptosis and causes growth arrest in AML blasts.Öğe HFE H63D mutation frequency shows an increase in Turkish women with breast cancer(Bmc, 2006) Günel-Özcan, Ayşen; Alyılmaz-Bekmez, Sibel; Güler, Emine Nilüfer; Güç, DicleBackground: The hereditary hemochromatosis gene HFE plays a pivotal role in iron homeostasis. The association between cancer and HFE hetero- or homozygosity has previously been shown including hepatocellular and nonhepatocellular malignancies. This study was performed to compare frequencies of HFE C282Y and H63D variants in Turkish women with breast cancer and healthy controls. Methods: Archived DNA samples of Hacettepe University Oncology Institute were used in this study. The HFE gene was investigated by PCR-RFLP. Results: All subjects studied were free from C282Y mutation. Thirty-nine patients had H63D mutation and were all heterozygous. H63D allele frequency was 22.2% (39/176) in the breast cancer patients, and 14% (28/200) in the healthy volunteers. Statistical analysis of cases with HFE H63D phenotype showed significant difference between breast cancer and healthy volunteers ( P = 0.02). Conclusion: Our results suggest that HFE H63D mutation frequencies were increased in the breast cancer patients in comparison to those in the general population. Also, odds ratios ( odds ratio = 2.05) computed in this study suggest that H63D has a positive association with breast cancer.
