Publications (26) View all
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Article: Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey).
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ABSTRACT: Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease. Clinical symptoms and findings (phenotypes) seen in this disease are generally fever, abdominal pain, and arthritis. Amyloidosis is also a significant complication. Phenotype-genotype correlations in FMF have not been conclusively resolved. The aims of this study were to find the most frequent mutation/genotype of FMF, as well as to investigate the role of genetic factors on the phenotype and on the development of amyloidosis in a population living in East Anatolia (Turkey). This study included 105 adult patients with FMF. DNA samples were obtained from peripheral blood lymphocytes of the patients. Mutations of the Mediterranean fever (MEFV) gene were analyzed with an FMF Strip Assay test kit (ViennaLab Labordiagnostika GmbH, Vienna, Austria). Patients were separated according to genotypes, and phenotypes were compared statistically by the chi-square test. The most frequent mutation was M694V (53%) and the most frequent genotype was M694V/M694V (26%). In total, 81% of the patients experienced abdominal pain, 76% had fever, and 22% had arthritis. Fever and arthritis were determined in similar ratios to other genotypes (76% and 19%, respectively) in the M694V/M694V genotype (74% and 29%, respectively) (p > 0.50 and p > 0.20, respectively). However, the patients without the M694V/M694V genotype (86%) had a higher abdominal pain ratio than did the patients with the M694V/M694V genotype (67%) (p <0.05). Renal amyloidosis was determined in 33% of both M694V/M694V and M680I(G/C)/M680I(G/C) homozygous groups and in 12% of the heterozygous groups (p < 0.02 and p < 0.00002, respectively). In other words, homozygous groups had higher ratios of renal amyloidosis. The most frequent mutation in FMF was M694V and the most frequent genotype was M694V/M694V. Fever, abdominal pain, arthritis, and renal amyloidosis were determined not only in patients with M694V/M694V genotype but also in other genotypes. Therefore, genotypes may not predict phenotypes in FMF. Renal amyloidosis was seen more frequently in homozygous genotypes.Genetic Testing and Molecular Biomarkers 04/2010; 14(3):325-8. · 1.11 Impact Factor -
Article: Exposure to bitumen fumes and genotoxic effects on Turkish asphalt workers.
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ABSTRACT: Bitumen fumes consist essentially of polycyclic aromatic hydrocarbons (PAHs) and their derivatives, some of which are known to be carcinogenic or cocarcinogenic in humans. The aim of this study was to investigate exposure to asphalt fumes among Turkish asphalt workers and determine whether any effects could be detected with genotoxic tests. The study included 26 asphalt workers and 24 control subjects. Sister chromatid exchange (SCE) and micronucleus (MN) were determined in peripheral lymphocytes. Urinary 1-hydroxypyrene (1-OHP) excretion was used as a biomarker of occupational exposure to PAHs. The asphalt workers had a significant increase in SCEs and MN (for each, p < 0.001). A positive correlation existed between the duration of exposure and rates of SCE or MN frequencies (r = 0.49, p < 0.05; r = 0.53, p < 0.05, respectively). The concentration of 1-OHP in urine was higher for the asphalt workers than for the controls (p < 0.001). However, we found that there was no statistically significant correlation between the urinary 1-OHP concentration and SCEs or MN frequencies (r = 0.25, p > 0.5; r = 0.17, p > 0.5, respectively). This study shows that Turkish asphalt workers have an increased exposure to PAHs from bitumen fumes, and genotoxic effects could be detected by SCEs and MN tests.Clinical Toxicology 04/2009; 47(4):321-6. · 2.22 Impact Factor -
Article: Sister chromatid exchange analysis in patients with psoriasis.
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ABSTRACT: Psoriasis is a common, chronic inflammatory skin disease with unknown aetiology. An increased reactive oxygen species (ROS) and insufficient antioxidant activity have been determined in psoriatic lesions. The analysis of sister chromatid exchange (SCE) is a cytogenetic technique used to show DNA damage caused by an exchange of DNA fragments between sister chromatids. The study aimed to determine the rates of SCE in psoriatic patients (17 female and 19 male) and healthy controls (15 female and 15 male) as well as superoxide dismutase (SOD), glutathione peroxidase (GP) and catalase (CAT) activity in both groups. We found significantly higher SCE rates in the patients (P < 0.00001). In addition, statistically significant decreased levels of erythrocyte SOD and CAT activities were noted in the patients(P < 0.001 and P < 0.05 respectively). Furthermore, a statistically significant increased erythrocyte GP activity was found in the psoriasis group (P < 0.05). Our results indicate that chromosomal instability may play an important part in the aetiology of psoriasis. In addition, the results support the hypothesis of an imbalance in the oxidant-antioxidant system in psoriasis.Experimental Dermatology 06/2008; 17(6):524-9. · 3.54 Impact Factor -
Article: HLA class I and class II genotyping in patients with chronic urticaria.
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ABSTRACT: Chronic urticaria (CU) is a common disease in which pathogenesis is unclear and which is resistant to therapy. Recent investigations have indicated that autoimmunity plays a role in nearly one third of CU patients. The present study aimed to investigate the relationship between human leukocyte antigen (HLA) class I and class II antigens and immune pathogenesis of CU. HLA class I and class II antigens were investigated in 40 patients diagnosed with CU, utilizing serologic techniques and polymerase chain reactions. The study was performed between October 2005 and May 2006. Further HLA typing in patient subsets was done depending on the response of patients to intradermal injection of autologous serum. About 30 healthy and genetically unrelated individuals formed the control group for evaluation. The results revealed that HLA-B44 frequency was significantly higher (25%) in the patient group as compared with the matched control group (3.33%) (p = 0.033, OR = 9.667). There was no significant difference in HLA-A allelic distribution between the patient and control groups. In the genotyping of class II HLA alleles, HLA-DRB1*01 (25%) (p = 0.033, OR = 9.667) and HLA-DRB*15 (25%) (p = 0.033, OR = 9.667) were predominant alleles in the patient group. The association of HLA-B44, HLA-DRB1*01 and HLA-DRB*15 alleles with idiopathic CU suggests that there is a genetic component in the pathogenesis of CU.International Archives of Allergy and Immunology 01/2008; 147(2):135-9. · 2.40 Impact Factor -
Article: The alteration of sister chromatid exchange frequencies in Behçet's disease with and without HLA-B51.
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ABSTRACT: The analysis of sister chromatid exchange (SCE) is a cytogenetic technique used to show DNA damage as a result of an exchange of DNA fragments between sister chromatids. It is known that there is an increased SCE frequency in Behçet's disease (BD). To investigate whether human leucocyte antigen (HLA)-B51-positive patients with Behçet's disease exhibit higher SCE frequencies than those without HLA-B51. Lymphocytes from 75 patients (38 women, 37 men) and from 50 controls (28 women, 22 men) were cultured in darkness for 72 h in the presence of bromodeoxyuridine. Metaphase chromosomes were stained with a fluorescence plus Giemsa technique after a standard harvest procedure. For HLA-B51 typing, DNA was extracted from ethylenediaminetetraacetic acid blood samples and HLA-B5 allele genotyping was performed by the polymerase chain reaction (PCR)-sequence specific primer method. Thirty-nine of 75 patients with BD (52%) and 15 of 50 controls (30%) were found HLA-B51-positive. The SCE frequencies in HLA-B51-positive patients were higher than in HLA-B51-negative ones (P < 0.001), whereas no difference was detected in the control group. This study revealed that there was a significant association between elevated SCE frequencies and existence of HLA-B51 patients with BD.Journal of the European Academy of Dermatology and Venereology 02/2006; 20(2):149-52. · 2.98 Impact Factor
