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Öğe Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study(Dove Medical Press Ltd, 2016) Coskun, Salih; Varol, Sefer; Ozdemir, Hasan H.; Celik, Sercan Bulut; Balduz, Metin; Camkurt, Mehmet Akif; Cim, AbdullahMigraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine prointerleukin-1 beta, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21-0.94]). In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6%) than in the control group (n=1, 0.4%) (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06-69.07]). However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964). In conclusion, the results of the present study suggest that biallelic mutations in the MEFV gene could be associated with a risk of migraine in the Turkish population. Moreover, MEFV mutations could be related to increased frequency and short durations of migraine attacks (P=0.043 and P=0.021, respectively). Future studies in larger groups and expression analysis of MEFV are required to clarify the role of the MEFV gene in migraine susceptibility.Öğe Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder(Elsevier Science Bv, 2016) Coskun, Salih; Simsek, Seref; Camkurt, Mehmet Akif; Cim, Abdullah; Celik, Sercan BulutVitamin D is implicated in several aspects of human physiology, and polymorphisms in the vitamin D receptor gene (VDR) are associated with a variety of neuropsychiatric disorders. The aims of this study are to determine whether VDR polymorphisms are associated with autism spectrum disorder (ASD), to examine serum 25-hydroxyvitamin D (25(OH)D) levels in ASD, and to explore whether VDR polymorphisms influence serum 25(OH)D levels. We investigated 480 subjects (237 children with ASD and 243 healthy controls) for the following VDR polymorphisms: TaqI, BsmI, FokI, ApaI, and Cdx2. Within the same samples, 25(OH)D levels were available only for 85 patients and 82 controls. The Cdx-2 variation was shown to deviate from Hardy-Weinberg equilibrium in the controls and was therefore excluded from the study. We found that the frequency of rare FokI TT, TaqI CC, and BsmI AA genotypes differed significantly between children with ASD and the controls (p = 0.042, p = 0.016, p = 0.038, respectively). After correction for multiple testing, only the TaqI CC genotype remained significant. Further analysis using a recessive model showed that rare genotypes of these polymorphisms were significantly higher in patients compared to controls (p = 0.045, p = 0.005 and p = 0.031, respectively). However, no significant association was found between ApaI and ASD. We found serum 25(OH)D levels to be significantly higher in children with ASD (p < 0.001) and that the FokI polymorphism had an effect on serum 25(OH)D levels in children with ASD (p = 0.041). Additionally, we found the haplotype GTTT (BsmI/TaqI/FokI/ApaI) conferred an increased risk for developing ASD (p = 0.022; odds ratio [95% confidence interval] = 2.322 [1.105-4.879]). This is the first clinical study evaluating the association between serum 25(OH)D levels and VDR polymorphisms in children with ASD. Our results demonstrated a significant association between TaqI, BsmI, and FokI polymorphisms and ASD and showed for the first time that FokI polymorphisms and haplotype GTTT (BsmI/TaqI/FokI/ApaI) are associated with an increased risk of ASD. Our findings support the hypothesis that 25(OH)D is involved in the pathophysiology of autism and that serum 25(OH)D levels may be affected by FokI polymorphisms in children with ASD. Our results should be considered as preliminary and needs confirmation by future studies. (C) 2016 Elsevier B.V. All rights reserved.Öğe Association of Polymorphisms within the Serotonin Receptor Genes 5-HTR1A, 5-HTR1B, 5-HTR2A and 5-HTR2C and Migraine Susceptibility in a Turkish Population(Korean Coll Neuropsychopharmacology, 2016) Yucel, Yavuz; Coskun, Salih; Cengiz, Beyhan; Ozdemir, Hasan H.; Uzar, Ertugrul; Cim, Abdullah; Camkurt, M. AkifObjective: Migraine, a highly prevelant headache disorder, is regarded as a polygenic multifactorial disease. Serotonin (5 HT) and their respective receptors have been implicated in the patogenesis. Methods: We investigated the 5-HT1A, 5-HT1B, 5-HT2A, and 5-HT2C receptor gene polymorphisms and their association with migraine in Turkish patients. The rs6295, rs1300060, rs1228814, rs6311, rs6313, rs6314, rs6318, rs3813929 (-759C/T) and rs518147 polymorphisms were analyzed in 135 patients with migraine and 139 healthy subjects, using a BioMark 96.96 dynamic array system. Results: We found no difference in the frequency of the analyzed eight out of nine polymorpisms between migraine and control groups. However, a significant association was found between the rs3813929 polymorphism in the promoter region of 5-HTR2C gene and migraine. Also, the allele of rs3813929 was more common in the migraine group. Conclusion: This result suggests that the 5-HTR2C rs3813929 polymorphism can be a genetic risk factor for migraine in a Turkish population.Öğe Contribution of polymorphisms in ESR1, ESR2, FSHR, CYP19A1, SHBG and NRIP1 genes to migraine susceptibility in Turkish population(Indian Acad Sciences, 2016) Coskun, Salih; Yucel, Yavuz; Cim, Abdullah; Cengiz, Beyhan; Oztuzcu, Serdar; Varol, Sefer; Ozdemir, Hasan H.Migraine, a highly prevalent headache disorder, is regarded as a polygenic multifactorial disease, Single-nucleotide polymorphisms (SNPs) in the genes that involved in sex hormone metabolism may comprise risk for migraine, but the results of previous genetic association studies are conflicting. The aim of this study was to evaluate genetic variants in genes involved in oestrogen receptor and oestrogen hormone metabolism in a Turkish population. A total of 12 SNPs in the ESR1, ESR2. FSHR, CYP19A1 SHBG and NRIP1 genes were genotyped in 142 migraine cases and 141 nonmigraine controls, using a 13iolVtark 96,96 dynamic array system. In addition, gene gene interactions were analysed using generalized multifactor dimensionality reduction (GMDR) methods. According to GI\ADR analysis, our results indicated that there was a significant association between migraine and gene gene interaction a.mong the CYP19A1 FSHR, ESR1 and NRIP1, Single-gene variant analysis showed that a significant association was observed between the TT genotype of rs10046 and migraine susceptibility. When the analysis was performed only in women, the GG genotype of rs222974I was different between migaineurs and controls. When the female migraine patients were divided into two groups, migraine related to menstruation ilVIRM) or migraine not related to menstruation (MN RN), OG genotype of rs726281 was significantly associated with M FM. These results suggested that rs10046 could play a potential role in migyaine susceptibility in Turkish population, Also, the rare GG genotype of rs726281 appears to influence migraine susceptibility in a recessive manner in MRM subgroup of female patients. In addition, variant GG genotype of rs2229741 may reduce the risk of migraine in Turkish women.Öğe Factors influencing insulin usage among type 2 diabetes mellitus patients: A study in Turkish primary care(Taylor & Francis Ltd, 2016) Yilmaz, Ahmet; Ak, Muharrem; Cim, Abdullah; Palanci, Yilmaz; Kilinc, FarukBackground: DM (diabetes mellitus) patients with poorly regulated blood glucose levels are at risk of increased morbidity and mortality. There are different factors that cause resistance to the initiation of insulin therapy such as beliefs and perceptions concerning diabetes and its treatment and the nature and consequences of insulin therapy. Objectives: We aimed to explore the reasons for this reluctance and how these obstacles could be overcome so that DM patients who require insulin could initiate therapy. Methods: This was a cross-sectional, descriptive study of diabetic patients with glycated haemoglobin A(1c) (HbA(1C)) levels above 7.0%, who were followed-up at a primary care and endocrinology outpatient clinic. Results: Ninety-four patients (57.4% females, 42.6% males) were recruited for this study. Most patients (57.4%) considered that insulin was a drug of last resort. Among all patients, 34.1% thought that insulin lowered blood glucose levels to an extreme degree and 14.9% disagreed. The patients thought that self-injection was hard (27.6%), required someone else to administer the injection (27.6%), insulin injection was painful (33.0%). 59.6% of all patients believed that their religion did not restrict the use of insulin, 52.1% stated that their family physicians had sufficiently informed them. Conclusion: Our most significant finding is that a lack of adequate information relating to insulin appears to be the major factor behind DM patients' refusal of insulin treatment. The fact that patients consider insulin treatment as a final solution to DM could be related to resistance to the initiation of insulin therapy.Öğe Increased Caspase-3 Immunoreactivity of Erythrocytes in STZ Diabetic Rats(Hindawi Publishing Corporation, 2012) Firat, Ugur; Kaya, Savas; Cim, Abdullah; Buyukbayram, Huseyin; Gokalp, Osman; Dal, Mehmet Sinan; Tamer, Mehmet NumanEryptosis is a term to define apoptosis of erythrocytes. Oxidative stress and hyperglycemia, both of which exist in the diabetic intravascular environment, can trigger eryptosis of erythrocytes. In this experimental study, it is presented that the majority of erythrocytes shows caspase-3 immunoreactivity in streptozocin- (STZ)-induced diabetic rats. Besides that, caspase-3 positive erythrocytes are aggregated and attached to vascular endothelium. In conclusion, these results may start a debate that eryptosis could have a role in the diabetic complications.Öğe Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene(Galenos Yayincilik, 2015) Cim, Abdullah; Coskun, Salih; Gorukmez, Orhan; Yuksel, Hatice; Uluca, Unal; Di Pietro, Erminia; Plourde, FrancoisPeroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry. The PEX7 gene was sequenced in the patient and his parents. A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents. In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.Öğe Serum IL-4 and IL-10 Levels Correlate with the Symptoms of the Drug-Naive Adolescents with First Episode, Early Onset Schizophrenia(Mary Ann Liebert, Inc, 2016) Simsek, Seref; Yildirim, Veli; Cim, Abdullah; Kaya, SavasObjective: In this study, it was aimed to understand the underlying possible immunopathogenesis of first episode, early onset schizophrenia (EOS) through profiling the T helper 1 (Th-1) cell cytokines TNF-, IFN-, and IL-2, Th-2 cell cytokines IL-4 and IL-10, Th-17 cell cytokine IL-17A, and inflammatory cytokine IL-6. Methods: The study included a total of 30 children, admitted to child psychiatry outpatient clinic aged between 10 and 17 years of age, who had not received prior therapy and were diagnosed with psychosis according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) as the patient group, and 26 age- and gender-matched children as the control group. Structured psychiatric interviews (K-SADS-PL and PANSS) were conducted with all participants. The BD Cytokine Bead Array Human Th-1/Th-2/Th-17 Cytokine Kit is used for the measurement of serum cytokines, for example, IL-2, IL-4, IL-6, IL-10, IL-17A, TNF-, and IFN-. Results: There was no significant difference between groups in terms of IL-2, IL-4, IL-6, IL-10, IL-17A, TNF-, and IFN- levels (p>0.05). However, there was a significant correlation between IL-10 and IL-4 with negative symptoms of EOS (r=-0.65, p=0.02 and r=0.67, p=0.02, respectively). Conclusion: IL4 and IL-10 levels have a relationship with negative symptoms of disease. Therefore, this study might suggest that immunological processes might have a role in the disease pathophysiology.Öğe The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)(Elsevier, 2015) Coskun, Salih; Ustyol, Lokman; Bayram, Yasemin; Bektas, M. Selcuk; Gulsen, Suleyman; Cim, Abdullah; Uluca, UnalFamilial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations in Van province of Eastern Anatolia and to compare them with the other studies from various regions of Turkey. Therefore, we retrospectively evaluated MEFV gene mutations in 1058 pediatric patients with suspected FMF. The MEW gene mutations were investigated using Sanger sequencing and the multiplex minisequencing technique. We identified 37 different genotypes and 16 different mutations. The four most common mutations and allelic frequencies were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%). M694V was the most common mutation, and the M694I frequency was found to be higher compared to studies from other regions of Turkey. In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEW gene in a 12-year-old boy, who had a typical FMF phenotype. In conclusion, this study evaluated the distribution of MEFV gene mutations in children with FMF as the first study conducted in Van province, Eastern Anatolia. (C) 2015 Elsevier B.V. All rights reserved.
