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Th cells play an important role in pathogenesis of type 1 diabetes (T1D). Peripheral blood mononuclear cells were isolated from peripheral blood samples from newly diagnosed (ND), 1-year (1YD), and 5-year T1D (5YD) patients (n:8 of each group), 8 healthy controls (HC), and cultured for 24 h under unstimulated (US) and stimulated conditions. Cell ratios of Th1, Th2, Th17, Treg, and intracellular levels of IFN-γ, TNF-α, IL-10, TGF-β, IL-5, IL-13, IL-17, and IL-21 cytokines were evaluated using the flow cytometry. mRNA expressions of transcription factors T-bet, GATA3, ROR-γt, and FOXP3 of these cells were determined by real-time PCR. Reduced CD4

Purpose Recent studies indicate that dysbiosis of gut microbiota and low-grade infammation are important pathogenic determinants of type two diabetes mellitus (T2DM). The aim of this study is to investigate the efects of Lactobacillus GG on glycemic control, lipid profle, infammatory parameters, and some gene expression levels in individuals with T2DM. Methods In a randomized, placebo-controlled trial, 34 women, aged 30–60 years with T2DM consumed daily probiotics or placebo for 8 weeks. The probiotic group consumed 10× 109 Cfu/day Lactobacillus rhamnosus GG ATCC 53,103 (LGG), approved by the TR Ministry of Food, Agriculture, and Livestock. Anthropometric measurements, food diary, fasting blood, and fecal samples were taken at baseline and post-treatment. Results Fasting blood glucose was signifcantly decreased in probiotic (p=0.049) and placebo (p=0.028), but there was no diference between the groups. In the probiotic group, no signifcant diference was observed in HbA1c, fructosamine, lipid profle, and infammatory variables compared to baseline. In this group, with LGG supplementation, mucin 2 and 3A (MUC2 and MUC3A) gene expressions increased more than ninefolds (p=0.046 and p=0.008, respectively) at posttreatment. Meanwhile, there was no signifcant change in any of the gene expressions in the placebo group. There was no signifcant diference in energy, protein, dietary fber, and cholesterol intakes between placebo and probiotic groups during the study. However, daily fat intake (p=0.003), body weight (p=0.014), and body fat (p=0.015) in the probiotic group were signifcantly decreased. Conclusion In this study, the efects of a single probiotic strain were investigated for 8 weeks. At the end of the study, although there was no fnding that clearly refected on the glycemic parameters of T2DM, its benefcial efects on the expression of mucin genes, which are responsible for weight loss and protection of intestinal barrier functions, cannot be denied. Further studies are needed to reveal the importance of these fndings. Clinical trial registration ID: NCT05066152, October 4, 2021 retrospectively registered in ClinicalTrials.gov PRS web site.

Background: Various variants of the miR-219-1 gene are one of the first genes associated with NSCLC prognosis in the literature. Objectives: We aimed to genotype two different variants of the miR-219-1 gene and to investigate to using of the result as a biomarker in the diagnosis and treatment of NSCLC. Materials and Methods: The patients were chosen according to International NSCLC criteria and genomic DNA was isolated from blood (138 patients and 100 healthy individuals). Then qRT-PCR was applied to determine the rs213210 and rs421446 variants of miR-219-1 gene polymorphisms. Allele and genotype frequencies were compared using Pearson’s chi-square and Fisher’s exact tests test. Results: We found that TT genotype (p=0,381) in rs213210 compared with CC genotype (p=0,165) and CC genotype (p=0,823) in rs421446 compared with TT genotype (p=0,537) did not show a significantly increased risk of NSCLC. There is no relationship between polymorphisms in miR-219-1 and the outcome of NSCLC. Conclusion: miRNA single nucleotide polymorphisms can be used as genetic biomarkers to predict cancer susceptibility, early diagnosis, and prognosis. Our study has shown that two variants of miR-219-1 were not related to NSCLC in the Turkish population. The reason for this can be differences in ethnicity, regions, and background of population and these differences could lead to various outcomes. Keywords: NSCLC; miR-219-1 gene; single-nucleotide polymorphisms.

Background Aortic aneurysm occurs in the thoracic and abdominal sections of the aorta and is a deadly late-age-at-onset disease. Thoracic aortic aneurysms (TTAs) are characterized by progressive smooth muscle cell rarefaction due to impaired extracellular matrix. The aim of this study was to investigate fibrillin-1 (FBN-1), fibronectin-1 (FN-1) and tissue inhibitors of metalloproteinases-3 (TIMP-3) gene expression levels in patients with TTA. Materials and methods The data were analyzed for 16 patients treated for TAA and nine control subjects. Tissue samples obtained during surgery were frozen immediately in liquid nitrogen and stored at −80°C until RNA isolation. Gene expression analysis was performed by quantitative reverse transcription polymerase chain reaction for each gene and Beta actin was used as control gene. 2−ΔΔCT method was used for the determining expression levels of the genes. Results According to the results of this study, TIMP-3 gene was nine-fold higher expressed in TAA tissues (p = 0.034). Furthermore, TIMP-3 expression levels were found associated with fasting blood glucose, red blood cells and ejection fraction. The gene expression levels of FBN-1 and FN-1 were not statistically significant (p > 0.05). Conclusion In this clinical trial, we concluded that TIMP-3 expression increases in dilated aorta.

Idiopathic Pulmonary Fibrosis (IPF) is the most common type of Idiopathic Interstitial Pneumonias (IIP). The aim of this study is to determine the mutation of variants in four telomere-related genes and to determine the possible relationship between these mutations and telomere shortening in order to contribute to the understanding of the pathophysiology of IPF. For this study, 34 individuals with IPF, 32 individuals with non-IPF ILD (Interstitial Lung Disease), and 31 healthy controls between the ages of 40 and 85 were included. The mutation analysis and telomere measurements were examined for the volunteers. According to the mutation screening results, no significant difference was found between the patients with IPF, non-IPF ILD groups and healthy individuals in terms of genotyping analysis. However, in terms of the allele distribution for two genes, statistically significant difference was found in IPF and non-IPF ILD patients (TERT; p = 0.002 and TERC; p = 0.001). According to the telomere length measurement, the telomeres of the patients were shorter than of the control group (p = 0.0001). In compliance with the results of our analysis, it is thought that genes that have allelic significance from the point of gene mutations as well as telomere shortening may be risk factors for the disease.

CD55 and CD59 are complement regulatory proteins suggested to be related with progression of diabetes and its complications. The stromal cell-derived factor 1 (SDF-1) and C-X-C chemokine receptor type 4 (CXCR4) are chemokine proteins. We aimed to investigate the relation of CD55 and CD59 expression levels and polymorphisms of SDF-1 and CXCR-4 with type 2 diabetes mellitus (T2DM) and its complications. Seventy-five T2DM patients and 73 controls were enrolled. Expression levels of CD55 and CD59 were measured by FACS Calibur; qRT-PCR was used to determine SDF-1 and CXCR-4 gene polymorphisms. CD55 and CD59 expressions in patients with nephropathy, retinopathy and cardiovascular disease were significantly lower than controls. Frequency of CXCR-4 T allele carrying was high in patients and created 1.6 fold risk for the disease (p = .07). CXCR-4 a allele carriers had decreased nephropathy; although there was no statistical significance in carrying CXCR-4 T allele, presence of nephropathy was approximately 2 times higher (p = .254). The nephropathy risk increased 10-fold in CXCR-4 TT genotype carriers (p = .02). All SDF-1 CC genotype carriers had retinopathy, so, it was considered that the CC genotype was effective in retinopathy development (p = .031). For the presence of cardiovascular disease, significant difference was observed for SDF-1 genotypes. Increased cardiovascular risk of 5- and 1.9-fold in SDF-1 T (p = .007) and CXCR-4 T (p = .216) allele carriers, respectively, was observed. We suggest that CD55 and CD59 protein levels and SDF-1 and CXCR-4 have predictive importance in process, complications and tendency of T2DM.

Objective Toll-like receptors (TLRs) are significant receptors to the innate immune system which symbolizes a family of pattern recognition receptors. We aimed to investigate associations between rs4833095 polymorphism of TLR1, rs3804099 polymorphism of TLR2, rs5744174 polymorphism of TLR5, and rs10004195 polymorphism of TLR10 in dyspeptic individuals with Helicobacter pylori infection. Methods Genomic DNA was isolated and genotyping of rs4833095 polymorphism in TLR1, rs3804099 polymorphism in TLR2, rs5744174 polymorphism in TLR5, and rs10004195 polymorphism in TLR10 were investigated in 400 individuals (205 in dyspeptic individuals with H. pylori-positive subjects and 195 dyspeptic individuals with H. pylori-negative subjects) by real-time PCR. Statistical analysis was performed by Pearson's Chi-square test. Results According to our study; rs4833095 polymorphism in TLR1 C allele, rs3804099 polymorphism in TLR2 C allele, rs5744174 polymorphism in TLR5 C allele, and rs10004195 polymorphism in TLR10 A allele increased the risk of H. pylori infection [odds ratio (OR), 2.01; 95% confidence interval (CI), 1.39-3.16; OR, 1.78; 95% CI, 1.19-2.6; OR, 1.87; 95% CI, 1.25-2.78; OR, 2.66; 95% CI, 1.72-4.099, respectively]. Conclusion This is the first study that investigates TLRs in H. pylori infection in Turkey. Our findings may support the hypothesis that polymorphisms in certain TLRs may cause a genetic predisposition to H. pylori-related gastric problems.

It is known that intestinal microbiota feeding habits in healthy humans have a direct effect on the formation of intestinal microbiota, while simultaneously playing the most important role in the development of the immune system. Our aim in this study was to investigate the effectiveness of this treatment method. Although there is no consensus on how to prepare a fecal transplantation material, the “Amsterdam protocol” is the most prevalent. The solution prepared according to this protocol is suspended using a filter or steel strainer to remove particles. These suspensions are used by injectors. Different diluent materials have been used in various studies, and it is recommended to use non-bacteriostatic 0.9% saline solution.Fecal transplantation was successfully applied to cases of subjects between 2 and 90 years of age when the work done up to these days was examined. The most common indication in childhood and geriatric population is pseudomembranous enterocolitis; inflammatory bowel disease, irritable bowel syndrome, chronic diarrhea/constipation, solitary rectal ulcer, and other chronic colon ulcers are associated with the gastrointestinal tract in adulthood. Studies demonstrating the efficacy of fecal transplantation are often focused on the treatment of Clostridium difficile infection, which is resistant to treatment or recurrence. Successful results obtained inspired many of the studies that followed fecal transplantation, and now fecal transplantation has been started to treat many diseases such as inflammatory bowel disease, irritable colon syndrome, chronic constipation, and non-alcoholic fatty liver disease, especially pseudomembranous enterocolitis due to C. difficile. If we think that our microbiota is a person-specific organ such as a fingerprint or eye retina, treatment of microbiota diseases will automatically differ from person to person. However, all characteristics such as age, donor selection, post-transplantation process management, environmental factors, especially the diseases that recipients and donors carry, amount of drug given during preparation process, and content of the material to be transplanted show how individualized treatment of fecal transplantation is.

Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called “attacks”. In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population. Methods: Thousand eight hundred and forty patients with an initial diagnosis of FMF were enrolled in the study. DNA was extracted from the peripheral blood according to the kit protocol. Twenty-two target sequences of the MEFV gene were amplified with polimeraze chain reaction and sequenced with the pyrosequencing method. Results: When the patients were divided into two groups according to age, the mean age of 866 patients was 8.5±7.5 years in

WOS: 000429488200020 PubMed ID: 29631694 Survivin is a gene that locates on human chromosome 17q25 and contains 142 amino acid. Survivin (BIRC5) is the first one of the found inhibitors of apoptosis proteins (IAPs) that is an important protein family and regulates apoptosis. It is expressed particularly in cancer cells. 3'UTR region of gene has components that is necessary for gene function and this region plays a critical role in the regulation of posttranscriptional regulation of the gene expression. Therefore, polymorphisms in this region may affect the function of the gene. The purpose of the study is to investigate possible relationship, that is associated with development and prognosis of the disease, between the 3'UTR region (rs17878624) polymorphism and NSCLC in a Turkish society.

Chronic lymphocytic leukemia (CLL) is the most common leukemia in Western countries. Cytogenetic lesions such as del13q14, del11q22.3, and del17p13 are identified in 50-60% of patients. Activation-induced cytidine deaminase (AID) plays a central role in somatic hyper mutation (SHM) and class switch recombination (CSR) and functions on Ig genes, but also target non-Ig genes, and over-expression of AID can lead to point mutations or translocations in non-Ig genes such as IgH/Myc translocation. Dicer and Drosha, which have a role in activation process of miRNA, also act in a double-strand DNA break (DSB) repair mechanism. In this study, whether the changes of AID, Dicer and Drosha expressions may be associated with both deletions and clinical outcomes in patients with CLL were investigated. AID expressions were increased in patients with CLL. However, cell lysate AID protein levels were only increased in patients with del17p or del11q who have poor prognosis. Decreased Dicer expressions were found in patients with deletion, whereas increased Drosha expressions were found in patients without deletion and with del13q. According to Rai and Binet staging systems, advanced-stage patients showed increased AID protein levels, decreased Dicer and Drosha expressions. Our findings may suggest that high AID expression and lower Dicer expression were observed in patients with CLL especially del17p and del11q and might associated with deletions such as del17p and del11q. AID, Dicer, and Drosha expressions might be used as an indicator of prognosis for CLL.

Diabetes mellitus (DM) is a metabolic disorder characterized by hyperglycaemia due to insulin production/secretion disorder or insulin resistance caused by various pathogenetic mechanisms. T helper cells (Th) play an important role in the pathogenesis of the disease. In our study, peripheral blood mononuclear cells (PBMC) were isolated from peripheral blood samples from newly diagnosed, 1 year and 5 year type 1 diabetes (T1D) patients (8 patients) and 8 healthy controls, and cultured for 24 hours under unstimulated and stimulated conditions. After culture, the cell ratios of Th1, Th2, Th17, and regulator T (Treg) and the intracellular levels of IFN-γ, TNF-α, IL-10, TGF-β, IL-5, IL-13, IL-17 and IL-21 cytokines were evaluated using Flow Cytometry; whereas mRNA expressions of the transcription factors T-bet, GATA3, ROR-γt and FOXP3 of these cells were determined by Real-Time PCR. Reduced CD4+CD25high cell ratios were detected in newly diagnosed T1D patients under unstimulated conditions. CD4+CD25high cells were found to be reduced in the newly diagnosed and 1 year group of patients compared to healthy controls under IL-2 stimulated conditions. Intracellular IFN-γ and TNF-α levels were low in all patients under unstimulated and IL-12 stimulated conditions. IL-17A and IL-21 were found to be high in patients with unstimulated and IL-6 stimulated conditions. Expressions of IL-10 and TGF-β have been observed to be reduced in patients. Th1/Th2, Th17/Treg and Th1/Treg ratios were higher in the patient groups. FOXP3 and GATA3 mRNA expressions were found to be low in patients, while RORγt and T-bet mRNA levels were higher than healthy controls under stimulated and unstimulated conditions. Our results suggest that Th cell subgroups play an important role in the pathogenesis of T1D. Disclosure B. Aydin Ozgur: None. S. Cinar: None. D. Ozturk: None. E. Coskunpinar: None. A.O. Gurol: None. M. Yilmaz: None.

Expression profiles of miRNAs are shown to be different in various cancers to regulate expression of mRNA or to have a role in inhibition of translation, thus it shows the possible effect in progression, invasion and metastasis of breast cancer cells. The effect of breast conserving treatment in local recurrence and survival rates for the patients who have multicentric breast cancer is still controversial. In our study, we intended to evaluate the foresight of 84 miRNAs which are identified in breast cancer for having differentiated expressions. Thirty-one patients with unifocal and 26 patients with multicentric breast cancer were included in this study. These tissue samples of both malignant and normal breast tissues were kept in RNA later solution at -80 degrees C. Eighty-four miRNAs were studied with miScript miRNA PCR Array Human Breast Cancer kit. Fold change, cut off value was accepted as four. In unifocal group, there were 13 upregulated and five downregulated miRNAs and in multicentric group, there were three upregulated and seven downregulated miRNAs. To reach better results for breast cancer diagnosis and treatment, it is important to enlighten tumor biology, and pay attention to target and individual therapy. Thus, miRNAs have potential role in identifying tumor characteristics in supporting diagnosis and resulting with better evaluated disease for better treatment results with individual strategies.

Sirekbasan, Serhat/0000-0001-7967-3539; Tuncdemir, Matem/0000-0002-5300-4449; Tombulturk, Fatma Kubra/0000-0002-4358-2309 AimsLucilia sericata larvae have been successfully used on healing of wounds in the diabetics. However, the involvement of the extraction/secretion (ES) products of larvae in the treatment of diabetic wounds is still unknown. Activator protein-1 (AP-1) transcription, composed of c-jun and c-Fos proteins, has been shown to be the principal regulator of multiple MMP transcriptions under a variety of conditions, also in diabetic wounds. Specifically, MMP-2 and MMP-9's transcriptions are known to be modulated by AP-1. c-jun has been demonstrated to be a repressor of p53 in immortalized fibroblasts. The aim of the present study is to investigate the effects of L. sericata ES on the expression of AP-1 (c-jun), p53, MMP-2, and MMP-9 in wound biopsies dissected from streptozotocin induced diabetic rats.MethodsThe expression levels of MMP-2, MMP-9, c-jun and p53 in dermal tissues were determined at days 0, 3, 7 and 14 after wounding, using immunohistochemical analysis and quantitative real-time PCR.ResultsThe treatment with ES significantly decreased through inflammation-based induction of MMP-2 and MMP-9 expression levels in the wounds of diabetic groups, compared to control groups at the third day of wound healing. At the 14th day, there were dramatic decreases in expression of c-jun, MMP-9, and p53 in ES-treated groups, compared to the diabetic group (P

DOI : 10.26650/IstanbulJPharm.2019.18010 Caveolin-1 (CAV-1) plays a crucial role in endothelial-nitric oxide synthase (eNOS) enzymatic activity. Therefore, CAV-1 and eNOS interactions have a significant impact on endothelial dysfunction, cholesterol levels, and atherosclerosis. We investigated the critical variations in NOS3 and CAV1 genes in this case–control study to determine the relations between the coronary heart disease (CHD) risk factors. The NOS3-rs1799983, CAV-1 rs3840634, and rs3807990 variations were analyzed in 76 CHD patients and 91 controls using the polymerase chain reaction. Mean serum Total-cholesterol levels were significantly higher in CHD patients with the CAV-1 rs3807990-T allele than in patients with CC genotype (p=0.017). There was a statistically significant correlation between the rs3807990-T allele and hypercholesterolemia in the CHD group (p=0.008). The multivariate analysis confirmed that the CAV-1 rs3807990-T allele (p=0.011) is a risk factor for hypercholesterolemia. Moreover, the serum HDL-Cholesterol level was detected to be higher in patients carrying both CAV1-rs3807990-T and NOS3-rs1799983-T alleles than those with the CAV-1 rs3807990-CC/NOS3-rs1799983-GG genotype subgroup (p=0.013). These results suggested that the genetic variations of CAV-1 rs3807990 and NOS3-rs1799983 may contribute to the increased hypercholesterolemia risk and thus on the development of CHD. Cite this article as : Ilikay S, Coskunpinar E, Kurnaz-Gomleksiz O, Bugra Z, Eronat AP, Ozturk O, Yilmaz-Aydogan H (2019). Effects of common variations of NOS3 and CAV1 genes on hypercholesterolemic profile in coronary heart disease. Istanbul J Pharm 49 (2): 53-60.

Objective: Fatty acid ?-oxidation defects can lead to difficulties at covering energy requirement of heart. The carnitine-shuttle is responsible for the transfering of long-chain fatty acids from the internal mitochondrial membrane. The role of genetic variants of the enzymes in the carnitine shuttle in coronary artery disease (CAD) has not been studied. Therefore, we performed a case-control study investigating the possible relation between the CPTIA-rs3019613 and CROT-rs2214930 gene variations located carnitine shuttle and CAD risk. Materials and methods: Study groups were comprised of 96 CAD patients and 85 controls. CPTIA-rs3019613 G?>?A and CROT-rs2214930 T?>?C polymorphisms were determined by real-time-PCR. Results: The CROT-rs2214930-CC genotype was found to be associated with decreased HDL-cholesterol (HDL-C) in controls (p?=?0.029). In patients with CPTIA-rs3019613-A allele, body mass index (BMI) (p?=?0.016) and BMI threshold-value (p?=?0.030) were found be higher compared to those with GG-genotype, while HDL-C threshold-value (HDL-C???0.90 mmol/L) was found to be lower (p?=?0.015). Regression analysis confirmed CPTIA-rs3019613-A allele has a significant relationship with decreased HDL-C (p?=?0.009) in patients. Conclusion: Our study indicated that the polymorphisms of the CROT and CPTIA genes related to ?-oxidation of long-chain fatty acids had an important effect on serum HDL-C levels and may be a potential risk for CAD. Amaç: Yağ asit ? oksidasyonundaki defektler kardiyovasküler problemlere ve kalbin ihtiyacı olan enerjinin karşılanmasında güçlüklere yol açabilir. Karnitin mekiği, uzun zincirli yağ asitlerinin iç mitokondriyal zardan transferinden sorumludur. Koroner arter hastalığında (KAH) karnitin mekiğindeki enzimlerin genetik varyantlarının rolü henüz çalışılmamıştır. Bu nedenle karnitin mekiğinde yer alan CPTIA rs3019613 G?>?A ve CROT rs2214930 T?>?C gen varyasyonları ile KAH riski arasındaki olası ilişkiyi araştıran bir vaka kontrol çalışması yaptık. Gereç ve yöntem: Çalışma grupları 96 KAH hastası ve 85 kontrolden oluşturulmuştur. CPTIA rs3019613-G?>?A ve CROT rs2214930 T?>?C polimorfizmleri gerçek zamanlı PZR ile tespit edilmiştir. Bulgular: Kontrol grubunda CROT rs2214930 CC genotipi düşük HDL-Kolesterol (HDL-K) düzeyleri ile ilişkili bulunmuştur (p?=?0.029). CPTIA rs3019613 A aleli olan hastalarda GG genotipli olanlara göre, vücut kitle indeksi (VKİ) (p?=?0.016) ve VKİ eşik değeri (p?=?0.030) daha yüksek iken, HDL-K eşik değeri (HDL-C???0.90 mmol/1) daha düşük bulundu (p?=?0.015). Regresyon analizi, CPTIA rs3019613 A alelinin, hastalarda azalmış HDL-K (p?=?0.009) ile ilişkisini doğrulamıştır. Sonuç: Çalışmamız uzun-zincirli yağ asitlerinin ? oksidasyonu ile ilişkili olan CROT ve CPTIA gen polimorfizmlerinin serum HDL-K düzeylerine önemli etkisi olduğunu ve KAH için potansiyel risk olabileceğine işaret etmektedir.

Background Twin studies to clarify the etiology of autism, copy number variations (CNV), and genome-wide association studies (GWAS) have provided strong evidence that genetic factors play an important role in the etiology of Autism spectrum disorder (ASD). The purpose of this study is to determine the relationship between Vitamin D Receptor (VDR) gene polymorphisms and disease development in ASD twins. Method The study included 32 pairs of dizygotic twins (64 patients) with ASD and 100 healthy subjects as the control group. Genomic DNA was isolated from blood samples. It is performed by PCR designed with region-specific primers. After the PCR procedure, RFLP was performed with appropriate enzymes to determine genotypes. The results were statistically evaluated by Chi Square Test and Haplotype analysis. Results When the results of our study were examined, the frequency of the variant CC genotype of FokI (rs2228570 T/C), the frequency of the variant TT genotype of ApaI (rs7975253 G/T) and the frequency of the variant TT genotype of TaqI(rs731236 T/C) were significantly higher than the control group (p:0,019, p:0,039, p:0,037). Conclusions In this study, single nucleotide changes in three different variants of the VDR gene were investigated in dizygotic twins cases with ASD in Turkey. Genotypically, it was found that patients showed statistically significant difference in all three regions compared to controls. In terms of allele frequencies of SNPs, it was observed that ApaI and TaqI allele frequencies were statistically significantly different between dizygotic patients with ASD and healthy controls.

Recent studies have reported circulating microRNAs (miRNAs) as novel biomarkers for cardiovascular diseases including acute myocardial infarction, heart failure, diabetes mellitus, stroke, and acute pulmonary embolism. The aims of this study were 1) to compare the plasma expression levels of miRNAs in patients with acute coronary syndrome (ACS) and control subjects and in ST-elevation myocardial infarction (STEMI) and non-STEMI 2) to evaluate miRNAs potential to be used as novel diagnostic biomarkers for ACS. Twenty seven consecutive patients, admitted to emergency department of a training and research hospital between January-December 2013 with acute chest pain and/or dyspnea and diagnosed with ACS, and 16 non-ACS control subjects were included in this study. miRNA profiling was performed by using real time polymerase chain reaction. Functions of dysregulated miRNAs were evaluated by computerized-pathways analysis. miR-221-3p was one of the two most dysregulated miRNAs with a fold regulation of 3.89. It was significantly positively correlated with both Troponin and GRACE and Synthax Score. Moreover, miR221-3p was found to be significantly inversely correlated with left ventricular ejection fraction. miR-221-3p was the most prominent biomarker candidate with an area under curve (AUC) level of 0.881 (95% confidence interval: 0.774-0.987; p=0.002). The present study is the first to report an increased expression levels of miR-221-3p in AMI. Since miR-221-3p has a high discriminative value and significant relations with Troponin, GRACE and Synthax score and left ventricular systolic function, it may be a potential biomarker for early prediction of AMI.

Twin studies provide strong evidence that genetic factors have a major role in the etiology of autism spectrum disorder (ASD) but in most patients the underlying genetic cause of the disease is unknown. Here we used whole-exome sequencing to study genome-wide differences in twins with autism in order to reveal the genetic changes responsible for the etiology of autism. DNA was isolated from peripheral blood samples from six monozygotic twins and one dizygotic twin and analyzed by OneSeq protocol, on an Illumina NextSeq platform. Bioinformatics analyses have revealed 110 disease-related genes, and after further filtering, we have identified 44 single nucleotide polymorphisms (SNPs). Functional network analysis has identified significant associations for 6 different genes, including known ASD candidate genes: FMN2, KCNQ2, NOTCH3, TMRC6A, SHANK3, and SLC6A4. Our results provide an independent evidence for known ASD genes and highlight other genes, which will further improve the understanding of the genetic basis of ASD.

Background: Activating the calcium-sensing receptor (CaSR), which regulates extracellular calcium, has been suggested to possibly decrease renin expression, thus playing a role in regulating the blood pressure via the renin-angiotensin-aldosterone system. Objectives: Considering this hypothesis, the aim of this study was to find the relationship between the gain-of-function variation of the CaSR gene, R990G (A 0.05). Conclusions: The common AA genotype of CaSR R990G was found to be related to hypertension in CHD patients while showing a higher association with hypertension, especially in women. We also suggest that the CaSR R990G AA genotype may have diverse effects on serum lipids and that the genetic effect could differ by gender.

Background: This study aims to investigate the possible relationships between epidermal growth factor receptor gene mutations, serum epidermal growth factor receptor levels, programmed death ligand gene expression levels and the risks and survivals of resectable nonsmall cell lung cancer patients. Methods: Deoxyribonucleic acid isolation was performed from peripheral blood samples and tumor tissues. The mutation analysis was performed for epidermal growth factor receptor. Programmed death ligand 1 gene expression levels were examined pathologically and histopathologically following the tissue tracing of 36 non-small cell lung cancer patients (29 males, 7 females; mean age 60.1 years; range, 41 to 79 years) and analyzed using real-time polymerase chain reaction. Epidermal growth factor receptor serum levels were assessed in all patients. Results: As a result of mutation analyses in 21 patients (28.5% of all adenocarcinoma patients), epidermal growth factor receptor mutation was determined in at least one exon in six patients. In epidermal growth factor receptor mutation detected patients, programmed death ligand 1 gene expression levels were associated with lymph node metastasis (p=0.036). However, epidermal growth factor receptor mutations were not statistically significantly associated according to histopathological examination (p>0.05). Of patients carrying exon 20 (c.2303G>T) mutations, 25% had tumors with perineural invasion. There was a statistically significant association between exon 20 insertions and c.2303G>T and lymphatic invasion (p=0.02), lymph node metastasis and exon 20 insertions (p=0.03). Patients with lower serum epidermal growth factor receptor levels (

Larynx cancer is a therapeutically challenging disease. Rapidly evolving experimentally validated data have significantly improved our understanding of the complex role of numerous RNA, DNA, and proteins that play a role in the development and progression of cancer. Based on the insights from approximately two decades of research, it seems clear that microRNAs (miRNAs) have revolutionized our concepts related to the main role of noncoding RNAs in different cancers' progression, development, and metastasis. Mechanistically, miRNAs have been reported to regulate different RNAs and finally protein-coding genes. The expression profiling of miRNAs and messenger RNA (mRNAs) was conducted for a deeper analysis of the miRNAs and mRNAs which play an essential role in larynx cancer. Downregulation or upregulation over twofolds in the miRNAs was considered to be significant, and that of sixfolds or below was considered to be significant for the mRNAs. In accordance with this approach, the expression levels of 43 miRNAs were increased in this study, whereas the expression levels of 129 were decreased. Accordingly, all the genomic expression studies provided evidence of upregulation of 97 genes, whereas 128 genes were found to be downregulated. Among these miRNAs, hsa-miR-20a-3p and hsa-miR-1972 were noted to be important in the etiology of larynx cancer.

The present work was supported by a grant from the Scientific Research Projects Coordination Unit of Istanbul University (Project No: 12888)., Despite being the most common chronic liver disease, the pathogenesis of nonalcoholic fatty liver disease (NAFLD) still remains unclear. According to the genome-wide association studies (GWAS) alternative alleles of the farnesyl-diphosphate farnesyltransferase 1 (FDFT1) gene involved in cholesterol biosynthetic pathway are known to affect hepatic squalene synthase (SQS or FDFT) expression. Recent studies have shown that the FDFT1 gene is associated with the clinical and histopathological characteristics of patients with NAFLD and thus is a candidate gene for NAFLD susceptibility. Our aim was to investigate the effect of rs2645424 C/T single nucleotide polymorphisms (SNPs) in NAFLD patients in the Turkish population. For this purpose, 64 Turkish NAFLD patients who underwent liver biopsy and 60 Turkish healthy control subjects were included in the study. We have evaluated the rs2645424 C/T SNPs genotypes (CC, wild type; CT, heterozygous; TT, mutant type) and the hepatic expression of the FDFT1 gene with real-time PCR and serum concentration of FDFT with ELISA method. The frequencies of the FDFT1 gene rs2645424, TT, CC and TC genotypes were the similar between patients with NAFLD and controls. Additionally, there was no significant correlation between serum FDFT1 mRNA expression and histological parameters in patients with NAFLD while it was significantly higher in patients with NAFLD in comparison to the healthy controls. The expression and variants of FDFT1 gene should be investigated in larger populations and different ethnic groups in order to clarify their impact on NAFLD pathogenesis., Scientific Research Projects Coordination Unit of Istanbul University [12888]

Objective: Apelin is a novel endogenous peptide with inotropic and vasodilatory properties and is the ligand for the angiotensin receptor-like 1 (APJ) receptor. The aim of the study was to investigate the association of 2 single-nucleotide polymorphisms (SNPs) in the apelin gene with susceptibility to coronary artery disease (CAD) in the Turkish population. Methods: The present observational case-control study consisted of 244 subjects (134 angiographically proven CAD patients and 110 healthy controls) aged 30-65 years. The association of 2 SNPs (rs3115758 and rs3115759) in the apelin gene and CAD risk was investigated. Real-time polymerase chain reaction (RT-PCR) was used to analyze the 2 SNPs in both the CAD and the healthy subjects. Allele and genotype frequencies between patients and control groups were compared using the Chi-square (χ2) test. The relationships of the 2 polymorphisms with the presence of CAD were determined with multiple binary logistic regression analysis after adjustment for CAD risk factors. Results: TT and AA risk genotypes of the rs3115758 and rs3115759 variants in the apelin gene were found to be significantly related with the risk of CAD with the same power (OR: 6.36, 95% CI: 1.41-28.6) (p=0.007). After adjustments for traditional CAD risk factors, the homozygous TT genotype for rs3115758 and AA genotype for rs3115759 increased the CAD risk, both with an OR of 5.91. Conclusion: Genetic variants in the apelin gene are significantly associated with the risk of CAD in the Turkish population.

Introduction and Objective: Genetic factors are the most important risk factors for the development of asthma. Genes are thought to increase the tendency of the individual to develop asthma by interacting with themselves and with environmental factors. In our study aimed to quantitatively identify the genes that could be expressed upregulated and/or downregulated miRNAs. Methods: Forty patients with allergic asthma who were admitted to the study in 2016 were included. The control group consisted of 20 healthy volunteers with no risk factors for lung diseases and no known disease / family trait. Results: In our study, 293 dysregulated miRNA genes were detected at the end of the microRNA profile screening by PCR Array method. The levels of miR-1248, miR-1273d, miR-362-5p, miR-302b-5p, miR-573, miR-181a-2-3p and miR-1976 were statistically significantly higher in the asthmatic patient group compared to the control group. Discussion and Conclusion: We believe that upregulated and downregulated miRNAs detected in our study may be biomarkers for the diagnosis and prognosis of allergic asthma.

Long- lasting alterations in brain gene expression in alcohol addiction have been determined although no clear mechanism has yet been elucidated. There exist many factors regulating the mechanism of gene expression. We aimed in this study to detect miRNA (microRNA) and mRNA expression profile at the specific brain regions regarding ethanol exposure and withdrawal. Rats were exposed to liquid alcohol consumption for 21 days. Oligonucleotides microarrays and bioinformatics analyses were used to identify gene expression, miRNA expression and their functions in the Prefrontal cortex, Hippocampus and Corpus striatum of wistar rats. A bioinformatics strategy with microarray analysis, quantitative real time PCR, bioinformatics and mRNA (messenger RNA) miRNA- miRNA integrative analyses revealed that expression models interact with neuroplasticity and synaptic processes. Those significantly changed after ethanol exposure and withdrawal processes included 160 mRNAs and 29 rat-miRNAs at prefrontal cortex, 142 mRNAs and 26 rat-miRNAs at hippocampus, and 143 mRNAs and 30 rat-miRNAs at corpus striatum. Gene ontology and ingenuity pathway analyses revealed that most of the altered genes were responsible for synaptic plasticity, neuron differentiation, chromatin organization and some certain important signaling pathways. In conclusion, consistent and integrated variations in miRNA expression and in their focus mRNAs in rat brain were noted after alcohol exposure and withdrawal. Besides, understanding the molecular mechanisms of alcohol abuse will no doubt guide to development of significant cure methods for addiction. We are of the opinion that our findings may shed light on classification of novel biomarkers.

Background: The process of development of bladder cancer features alteration of normal biological conditions caused by changes in molecular pathways. Removing control over regulation of these pathways could lead to changes in signal transduction and abnormal regulation of genes. During tumor formation and progression, genes regulate critical cellular processes, involved in cell cycling, growth and death. Here we evaluated the expression and prognostic importance of FGFR1, HRAS, CCND1, CCND3, STAT3 and FAS genes. Methods: Tumor tissues of 44 patients diagnosed with bladder cancer were investigated for changes in expression levels of FGFR1, HRAS, CCND1, CCND3, FAS and STAT3 genes by the RT-PCR method. Signal transduction pathways and expression of individual genes related to these pathways were analyzed using the “One Sample Test”. Results: There were statistically significant changes in the expression levels of HRAS, CCND1, CCND3 and STAT3, but not FGFR1 and FAS genes. Examination of associations with age, gender, smoking, chemotherapy, tumor grade and tumor growth pattern using the “Independent Samples Test”, showed importance relations between the CCND1 gene and cigarette smoking and sex. Conclusion: Over-expression of HRAS, CCND1, CCND3 and STAT3 genes may play roles in bladder cancer development and progression, while cigarette smoking is significantly associated with CCND1 gene expression and consequently concluded to be contributing to the development of bladder cancer.

It is becoming progressively more understandable that between transcription and translation there lies another versatile regulator that quantitatively controls the expression of mRNAs. Identification of miRNAs as key regulators of wide ranging signaling cascades and modulators of different cell-type and context dependent activities attracted basic and clinical scientists to study modes and mechanisms in details. In line with this approach overwhelmingly increasing in vivo and in vitro studies are deepening our understanding regarding miR-421, mir-155 and miR-650 mediated regulation of cellular activities. We also attempt to provide an overview of long non coding RNAs.

Background The aim of the study is to determine whether there is a role of podoplanin and glutathione S-transferases T1 (GST-T1) expression in laryngeal squamous cell carcinoma. Methods In this study, 33 patients were enrolled and gene expression analysis was performed by qRT–PCR. The podoplanin and GST-T1 expression patterns were analyzed to determine their correlation with clinicopathologic parameters of laryngeal cancer. Results Of all included patients, 20 had supraglottic, and 13 had glottic laryngeal cancer. Increased expression of podoplanin was found in seven (35%) supraglottic tumor tissues and seven (53.8%) glottic tumor tissues, but GST-T1 expression was not detected. Conclusion Podoplanin expression did not show any prediction for tumor differentiation, regional metastasis, thyroid cartilage invasion, lymphatic vessel invasion, or tumor differentiation for laryngeal cancer, and also there were no significant differences in podoplanin expression between glottic and supraglottic regions, but extracapsullar extension is almost statistically significance (P = 0.05).

Crohn's disease (CD) decreases fertility both directly, by inducing inflammation in the fallopian tubes and ovaries, and indirectly, through the surgical interventions and tubal adhesions associated with disease treatment. Anti-müllerian hormone (AMH) is a reliable indicator of ovarian reserve in women. We aimed to compare serum AMH levels between reproductive-age women with CD and healthy controls.Serum AMH levels were measured by ELISA in 35 women with CD and 35 age-matched healthy women controls.CD patients and controls were similar in terms of age, height, weight and BMI. Mean CD duration was 60 months. CRP, ESR and leukocyte counts were significantly higher in CD patients compared to the controls (p0.001, p=0.004 and p=0.04, respectively). AMH levels in CD patients (1.02 ± 0.72) were significantly lower compared to the controls (1.89 ± 1.80) (p = 0.009). Serum AMH levels in CD patients with active disease (0.33 ± 0.25) were significantly lower compared to CD patients who were in remission (1.53 ± 0.49) (p = 0.001). Serum AMH levels were similar in CD patients with a disease duration of less than 5 years (17 patients) and CD patients with a disease duration of greater than 5 years (18 patients) (p = 0.8). In CD patients, a negative correlation between CDAI and serum AMH levels was found (r = -0.718, p0.001). Serum AMH levels were similar in CD patients who had (6 patients) and had not undergone (29 patients) surgical treatment (p = 0.2).Serum AMH levels of reproductive-age women with CD were significantly lower compared to the controls. CDAI and AMH are inversely correlated.

Bax is an important protein involved in apoptotic process. Mutations of the Bax gene are known to af- fect protein expression and function. A promotor polymorphism G(－248)A in the 5’UTR of Bax gene may alter regulation of apoptosis in carcinogenesis. Our study was performed to test the association be- tween G(－248)A polymorphisms in the Bax gene and breast cancer risk and progression. G(－248)A poly- morphism was genotyped in a Turkish breast cancer, case-control population including 53 female cancer patients (mean age ± SD: 60.9 ± 11.9 years) and 82 controls (mean age ± SD: 57.2 ± 17.5 years) using PCR-RFLP analysis. Genotype and allele frequencies were assessed with the chi-square test. There was no difference in the distribution of Bax genotypes, and allele frequencies were G (87.7% versus 88.4%) and A (12.3% versus 11.6%) in the cancer patients and controls, respectively. Within the cancer group, the presence of a polymorphic Bax G(－248)A allele was not associated with clinico-pathological parameters such as advanced tumor stage, lymph node or distant metastasis. We present the first to report on Bax G(－248)A polymorphisms in breast cancer. Our re- sults suggest that Bax G(－248)A polymorphism do not modify individual susceptibility to invasive breast cancer in Turkish women.

Osteopontin is a secreted phosphorylated glycoprotein that is expressed by a variety of cell types and that mediates numerous and diverse biological functions. Osteopontin knockout mice are protected from obesity-induced hepatic steatosis. In the present study, we sought to investigate whether serum osteopontin concentrations are associated with liver histology in patients with nonalcoholic fatty liver disease.Serum levels of osteopontin were measured by enzyme-linked immunosorbent assay in 179 well-characterized patients with nonalcoholic fatty liver referred for liver histology and 123 control subjects.Serum osteopontin levels were markedly higher in patients with nonalcoholic fatty liver disease than in controls (p0.001). Multivariable analysis showed that osteopontin levels were strongly and independently associated with both portal inflammation (β=0.294, p0.01) and serum aminotransferase levels (aspartate aminotransferase: β=0.295, p0.01; alanine aminotransferase; β=0.285, p0.01).In summary, these data demonstrate that serum levels of osteopontin are elevated in nonalcoholic fatty liver disease and are a significant independent predictor of portal inflammation in this clinical entity.

Lung cancer is the most common cancer worldwide. Survivin is one of the first reported inhibitors of apoptosis proteins, which is an important family of proteins that regulate apoptosis. The survivin gene is located on human chromosome 17q25, which is composed of 142 amino acids. A common polymorphism of the survivin gene promoter -31G/C has been shown to influence cancer risk. This genetic variant has been associated with overexpression of survivin at both protein and mRNA levels in cancer cells. We examined promoter (-31G/C) genotype frequency in a patient group (N = 146), 77.4% GG, 18.5% GC, 4.1% CC, and in a control group (N = 98), 57.1% GG, 34.7% GC, 8.2% CC. These distributions were significantly different. Promoter (-644C/T) genotype frequency in the patient group was 40.4% TT, 48.6% TC, 11% CC, and in the control group it was 55.1% TT, 40.8% TC, 4.1% CC; these distributions were also significantly different. Individuals carrying the survivin 31 GC genotype and those carrying the survivin 644 CC genotype had a significantly decreased risk of having non-small cell lung cancer.

BACKGROUND AND AIM: Lung cancer is the leading cause of cancer deaths worldwide. Majority of the cases are non-small cell lung carcinoma (NSCLC) account for 85% of all cases. Although several prognostic factors for survival in NSCLC have been identified to date, new markers are needed to predict of outcome for the individual cases. Survivin is a member of the inhibitor of apoptosis family and its expression has been reported to be a candidate as a prognostic indicator. The association between survivin gene promoter and development of lung cancer has been reported before but the prognostic value of gene polymorphisms remains controversial. METHODS: We investigated promoter -31 G/C genotype, -644 C/T genotype and 625 C/G genotype to reveal the prognostic value of promoter polymorphisms of survivin in NSCLC. In total, 133 patients were evaluated. The prognostic significance of survivin gene polymorphisms was determined by both univariate and multivariate cox survival analysis. RESULTS: A cox regression analysis revealed that survivin -31 G/C, -644 C/T and 625C/G promoter polymorphisms are not associated with survival (P=0.934, P=0.793, P=0.755, respectively). CONCLUSIONS: This study shows that carrying 31GC, 644CC and 625 CG genotype does not predict survival in NSCLC. Large prospective studies are needed to conclude the potential impact of survivin gene for the prognostic value in NSCLC.

Apelin is a novel endogenous peptide with inotropic and vasodilatory properties that is the ligand for the APJ receptor. The aim of this study was to investigate the relation of genetic variants on apelin with COPD in Turkish population. The present observational case–control study consisted of 341 Turkish subjects (224 COPD patients and 117 healthy controls), aged 40-80 years. Real-time polymerase chain reaction (RT-PCR) was used to analyze the 2 SNPs in COPD patients and healthy controls. Allele and genotype frequencies between patients and control subjects were compared using the chi-square (χ2) test. TT and AA risk genotypes of rs3115758 ve rs3115759 variants were significantly found to be related with risk of COPD with same power. The heterozygote and homozygote mutants genotypes of two variants (GT and TT and GA and AA respectively) were significantly found to be higher in patients group with the same rate. The homozygous TT genotype for rs3115758 increased the COPD risk with an OR 0,59 independent from other COPD risk factors. This is the first study on Turkish population in literature which investigates the relationship between COPD and the variations of apelin gene. In this study, the variants on apelin gene were found to be related with COPD in Turkish population.

Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples.Urine osmolality was low (300 mOsm/kg) during water deprivation test, and an increase more than 50 % in urine osmolality and recovery of the symptoms were observed by the administration of desmopressin in all patients. Plasma copeptin levels were lower than expected according to plasma osmolality. Pituitary MRI revealed partial empty sella with a bright spot in index patient and a normal neurohypophysis in the other affected subjects. Genetic screening revealed a novel, heterozygous mutation designated as c.-3AC in all patients.c.-3AC mutation in 5'UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies.

Nonalcoholic fatty liver disease (NAFLD) is the hepatic manifestation of metabolic syndrome and is one of the most common causes of chronic liver disease, worldwide. Lipoprotein-associated phospholipase A2 (Lp-PLA2) was recently characterized as a novel inflammatory biomarker that is correlated with several components constituting the metabolic syndrome.In this study, we determined the serum levels of Lp-PLA2 in patients with definite nonalcoholic steatohepatitis (NASH, n=25), borderline NASH (n=22), simple fatty liver (n=10), and healthy controls without evidence of liver disease (n=38). The levels of Lp-PLA2 were measured by enzyme-linked immunosorbent assay and compared in the four study groups. Moreover, concentrations of Lp-PLA2 were assessed in relation to the general characteristics of the study participants and the results of liver biopsy.Concentrations of Lp-PLA2 were significantly higher in patients with definite NASH (161.8±0.9 μg/L, P0.001), borderline NASH (135.4±47.7 μg/L, P=0.001), and simple fatty liver (132.4±46.2 μg/L, P=0.042) compared with healthy controls (86.2±40.7 μg/L). Furthermore, the serum Lp-PLA2 level was strongly associated to histological steatosis scores in patients with NAFLD (β=0.32, t=2.50, P=0.016).Although subject to future confirmation, our data suggest that Lp-PLA2 levels are elevated in NAFLD.

Aim:In this study, we aimed to investigate the relationship between the histological fibrosis stage of nonalcoholic fatty liver disease (NAFLD) and serum connective tissue growth factor (CTGF) to determine the usefulness of this relationship in clinical practice.Methods:Serum samples were collected from 51 patients with biopsy-proven NAFLD and 28 healthy controls, and serum levels of CTGF were assayed by ELISA.Results:Levels of CTGF were significantly higher in patients with NAFLD compared with controls (P= 0.001). The serum CTGF levels were significantly increased, that correlated with histological fibrosis stage, in patients with NAFLD [in patients with no fibrosis (stage 0) 308.2 ± 142.9, with mild fibrosis (stage 1–2) 519.9±375.2 and with advanced fibrosis (stage 3–4) 1353.2 ± 610 ng/l,P< 0.001]. Also serum level of CTGF was found as an independent predictor of histological fibrosis stage in patients with NAFLD (β= 0.662,t= 5.6,P< 0.001). The area under the ROC curve was estimated 0.931 to separate patients with severe fibrosis from patients with other fibrotic stages.Conclusion:Serum levels of CTGF may be a clinical utility for distinguishing NAFLD patients with and without advanced fibrosis.

Objective: To identify the well-known common translocations and FLT3 mutations in childhood acute myelogenousleukemia (AML) patients in Turkey. Material and Methods: The study included 50 newly diagnosed patients in which t(15;17), t(8;21), and inv(16)chromosomal translocations were identified using real-time PCR and FLT3 gene mutations were identified via direct PCR amplification PCR-RE analysis. Results: In all, t(15;17) chromosomal aberrations were observed in 4 patients (8.0%), t(8;21) chromosomal aberrationswere observed in 12 patients (24.0%), inv(16) chromosomal aberrations were observed in 3 patients (6.0%), and FLT3-ITD mutations were observed in 2 patients (4.0%); FLT3-D835 point mutation heterozygosity was observed in only 1patient (2.0%) patient. Conclusion: Despite of the known literature, a patient with FLT3-ITD and FLT3-D835 double mutation shows a bettersurvival and this might be due to the complementation effect of the t(15;17) translocation. The reportedmutation ratein this article (4%) of FLT3 gene seems to be one of the first results for Turkish population.

In this study, we aimed to investigate a possible association of the COX-2 polymorphisms with the risk of developing lung carcinoma. COX-2 (−765G→C; −1195A→G) gene polymorphisms were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism in 118 healthy individuals and 231 patients with lung carcinoma. The present study was the first that addressed the role of the COX-2−765G→C and −1195A→G polymorphisms in lung carcinoma in Turkish population. In the present study, we found that the frequencies of GG, CC, and CG genotypes of COX-2−765G→C and AA, GG, and AG genotypes of −1195A→G in our control group were 0.22, 0.22, 0.55 and 0.59, 0.0, 0.40, respectively. These frequencies in patient group were 0.34, 0.07, 0.58 and 0.74, 0.04, 0.24, respectively. There were statistically significant differences in COX-2−765G→C (P = 0.0002) and −1195A→G genotypes (P = 0.007) between the controls and patients. We found that individuals carrying −765 GG genotype and −765 G allele of COX-2 or 1195 AA genotype of COX-2 and −765G: −1195A haplotype had an increased risk for the development of lung carcinoma. In contrast, individuals with −765 CC, −1195 AG genotypes and −1195 G allele of COX-2 seem to be protective from lung carcinoma. We suggest that the COX-2−765G→C and −1195A→G genotypes may be a risk factor for lung carcinoma.

Background and aims: Sarcopenia is defined as a reduction in skeletal muscle mass, strength, and endurance observed with advancing age. Although Vitamin D receptor (VDR) polymorphism is reported to be associated with muscle mass and strength, evidence for this is limited and conflicting. In this study, we examined the association between the polymorphisms of VDR gene BsmI, TaqI and FokI and muscular mass and strength in elderly men. Methods: This is a cross-sectional study conducted in a university hospital. One hundred and twenty men over 65 years of age participated, all participants were active men living independently in Istanbul, who were followed as outpatients in geriatric polyclinics. Most common diagnoses were hypertension, hyperlipidemia, and mild to moderate osteoarthritis. Morbid obese patients were not included in the study. Genomic DNA was extracted from peripheral blood, and VDR genotypes were determined by the polymerase chain reaction. The peak torque of the knee flexors and extensors was measured on a Cybex 350 dynamometer. Body muscle mass was calculated by using bioelectric impedance analysis. Results: The extensor strength of the knee was higher in BB homozygotic men than in the Bb/bb group. No significant association was found with TaqI and FokI haplotypes. There was no significant association between muscle mass and strength, or between muscle mass and VDR genotype. Conclusion: Our data suggest that VDR gene BsmI polymorphism is associated with muscular strength in elderly men.