Investigation of Polymorphisms in Global Genome Repair Genes in Patients With Ovarian Cancer in the Turkish Population.

INTRODUCTION: Ovarian cancer (OC) poses significant challenges due to its high mortality rate, particularly in advanced stages where symptoms may not be evident. DNA repair mechanisms, including nucleotide excision repair (NER), are crucial in maintaining genomic stability and preventing cancer. This study focuses on exploring the role of two NER-related genes, Xeroderma Pigmentosum Complementation Group C (XPC) and DNA Damage Binding Protein 2 (DDB2), in OC susceptibility. OBJECTIVES: This study aims to investigate the association between variations in two NER-related genes, XPC rs2228001 and DDB2 rs830083, among a cohort of Turkish individuals with OC and control subjects. METHODS: Genotyping of XPC rs2228001 and DDB2 rs830083 was performed on 103 OC patients and 104 control subjects from the Turkish population using the Fast Real-Time 7500 PCR platform from Applied Biosystems. RESULTS: Individuals with the homozygous AA genotype of XPC rs2228001 exhibited a reduced likelihood of developing OC (OR 0.511; 95% CI 0.261 - 1.003; P-value 0.049), whereas those with the CC variant faced an elevated risk (OR = 2.32, 95% CI = 1.75-3.08; P-value 0.035). The presence of the A allele was associated with decreased OC occurrence (P-value = 0.035). Similarly, for DDB2 rs830083, individuals with the homozygous CG genotype had a diminished risk of OC (P-value 0.036), compared to those with the GG polymorphism (OR 1.895; 95% CI 1.033 - 3.476; P-value 0.038). Furthermore, the presence of the C allele was associated with a 1.89-fold decrease in the likelihood of OC. CONCLUSION: These findings shed light on the genetic factors influencing OC susceptibility, emphasizing the importance of DNA repair systems in disease. Further research in larger and more diverse populations is warranted to validate these findings, facilitating precise risk assessment, and potentially guiding tailored treatment strategies for OC patients.

Ovarian cancer is a serious disease with a high mortality rate, especially in its advanced stages when symptoms are often not obvious. Our cells have mechanisms to repair DNA damage and maintain stability in our genetic material. Two genes involved in one of these repair mechanisms, called nucleotide excision repair (NER), are Xeroderma Pigmentosum Complementation Group C (XPC) and DNA Damage Binding Protein 2 (DDB2). This study investigates how variations in these genes may influence the risk of developing ovarian cancer. Understanding these genetic factors could lead to improved methods for diagnosing and treating this challenging disease.

Unraveling the Impact of miRNA-17 in Glial Tumors and Cerebral Metastases: A Step Towards Enhanced Diagnosis and Prognosis.

BACKGROUND/AIM: MicroRNAs (miRNAs) have been identified as key regulators in various cancer types, including brain tumors. This study aimed to investigate the differential expression of miRNA-17 in glial tumors, cerebral metastases, and normal glial tissues. MATERIALS AND METHODS: A total of 42 patients were included in this cross-sectional study. Tissue samples were obtained from patients with glial tumors or cerebral metastases and from normal glial tissues. miRNA-17 expression levels were computed by using real-time polymerase chain reaction. Receiver operating characteristics analysis was used to determine the predictive potential of miRNA-17. RESULTS: In this study, we demonstrated a statistically significant difference in miRNA-17 expression levels between glial tumors and the control group (p=0.001), with higher miRNA-17 expression observed in glial tumors. Similarly, there was statistically higher miRNA-17 expression in metastatic cases compared with the control group (p=0.007). CONCLUSION: These findings suggest miRNA-17 might be a potential biomarker for differentiating glial tumors and cerebral metastases from normal glial tissue, although further research is necessary to validate these findings and investigate the potential role of miRNA-17 in the pathogenesis of these brain tumors.

Investigation of Mirna-223-3p Expression in Non-small Cell Lung Cancers.

BACKGROUND/AIM: Lung cancer remains a principal cause of cancer-related mortality worldwide. Non-small cell lung cancer (NSCLC), representing a significant 80-85% of lung cancer diagnoses, often presents at an advanced stage, with many patients demonstrating local growth or metastasis at the time of detection. Consequently, there exists a pressing need for augmented research into the molecular and genetic underpinnings of this malignancy to facilitate the development of innovative therapeutic and preventative strategies. MicroRNA's (miRNAs) are non-coding RNA molecules, consisting of 20-25 nucleotides. Their involvement in epigenetic processes holds a pivotal role in the elucidation of molecular mechanisms. This study examined the potential of miRNA-223-3p as a biomarker in the diagnosis of patients with NSCLC. MATERIALS AND METHODS: The expression analysis of miRNA-223-3p was performed in serum samples obtained from 18 patients diagnosed with NSCLC and a control group comprising 15 healthy volunteers. RESULTS: The miRNA-223-3p ΔCT values in the serum samples taken from the patient group exhibited statistically significant elevation compared to those of the control group (p=0.043). CONCLUSION: The present study corroborates previous literature indicating elevated levels of miRNA-223-3p in NSCLC cases and thereby suggesting its potential role as a biomarker in NSCLC cases.

Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method.

Ovarian cancer (OC) ranks seventh among malignant tumors worldwide. As one of the most common gynecological malignancies, ovarian cancer has the second-highest mortality rate, after cervical and uterine cancer. Next-Generation Sequencing (NGS) technology has enhanced multi-gene panel analysis and its clinical utility for identifying cancer-causing gene mutations. This study aimed to determine the presence of significant and nonsense mutations in telomerase reverse transcriptase (TERT), alpha-thalassemia/mental retardation, X-linked (ATRX), O-6-methylguanine-DNA methyltransferase (MGMT), and isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes using the Next-Generation Sequencing (NGS) method. A cohort of 33 patients diagnosed with ovarian cancer was included in this investigation, and peripheral blood samples were collected from all participants. Significant and nonsense mutations in TERT, ATRX, MGMT, IDH1, and IDH2 genes were detected using the Next-Generation Sequencing method. Bioinformatics analysis was conducted using the QIAGEN Clinical Insight system. Twenty-four patients exhibited seven different TERT mutations, occurring in both exonic and intronic regions. One patient displayed a c.699-3delC deletion in the intronic region of the IDH1 gene, and the c.532G > A (p.V178I) mutation observed in three patients was assessed as potentially harmful. Additionally, novel mutations c.881A > G and c.995A > G were observed in the ATRX gene. The heterozygous novel mutation identified in the ATRX gene was confirmed through Sanger sequencing. These mutations were not previously associated with ovarian cancer and are considered novel candidate markers for ovarian cancer susceptibility. Confirmation of these results through larger cohort studies or functional investigations will contribute to a better understanding of the molecular mechanisms underlying ovarian cancer.

Expression of miRNA-451 and miRNA-885 in Meningiomas.

BACKGROUND/AIM: Meningiomas are one of the most common intracranial tumors, accounting for 30% of the tumors of the central nervous system. MicroRNAs (miRNAs) are noncoding RNAs containing approximately 18-22 nucleotides that regulate gene expression by interfering with transcription or inhibiting translation. Recent studies have reported that miRNAs could provide information about the molecular pathogenesis of several types of tumors. This study aimed to examine the expression levels of miRNA-885 and -451 and to determine their potential roles as biomarkers in meningioma. MATERIALS AND METHODS: In total, 29 patients with meningioma (9 males and 20 females) were included in this study. The expression levels of miRNA were determined using real-time polymerase chain reaction. In addition, receiver operating characteristic curve analysis was used to analyze the predictive potential of miRNAs. RESULTS: Our results indicated a significant increase in miRNA-451 expression levels (p=0.003); however, there was no significant change in miRNA-885 expression levels (p=0.139) in patients with meningioma compared with the control group. Moreover, miRNA-885 and miRNA-451 expression levels did not differ significantly based on the histopathological grade of meningioma. CONCLUSION: miRNA-451 may be a novel potential marker for the diagnosis and prognosis, and a target for meningioma treatment.

Six potential biomarkers for bladder cancer: key proteins in cell-cycle division and apoptosis pathways.

BACKGROUND: The bladder cancer (BC) pathology is caused by both exogenous environmental and endogenous molecular factors. Several genes have been implicated, but the molecular pathogenesis of BC and its subtypes remains debatable. The bioinformatic analysis evaluates high numbers of proteins in a single study, increasing the opportunity to identify possible biomarkers for disorders. METHODS: The aim of this study is to identify biomarkers for the identification of BC using several bioinformatic analytical tools and methods. BC and normal samples were compared for each probeset with T test in GSE13507 and GSE37817 datasets, and statistical probesets were verified with GSE52519 and E-MTAB-1940 datasets. Differential gene expression, hierarchical clustering, gene ontology enrichment analysis, and heuristic online phenotype prediction algorithm methods were utilized. Statistically significant proteins were assessed in the Human Protein Atlas database. GSE13507 (6271 probesets) and GSE37817 (3267 probesets) data were significant after the extraction of probesets without gene annotation information. Common probesets in both datasets (2888) were further narrowed by analyzing the first 100 upregulated and downregulated probesets in BC samples. RESULTS: Among the total 400 probesets, 68 were significant for both datasets with similar fold-change values (Pearson r: 0.995). Protein-protein interaction networks demonstrated strong interactions between CCNB1, BUB1B, and AURKB. The HPA database revealed similar protein expression levels for CKAP2L, AURKB, APIP, and LGALS3 both for BC and control samples. CONCLUSION: This study disclosed six candidate biomarkers for the early diagnosis of BC. It is suggested that these candidate proteins be investigated in a wet lab to identify their functions in BC pathology and possible treatment approaches.

Determination of IDH1, IDH2, MGMT, TERT and ATRX Gene Mutations in Glial Tumors.

BACKGROUND/AIM: The most frequent and dangerous kind of primary brain tumor is glioblastoma multiforme (GBM). The survival rates associated with GBM are very short and molecular markers for predicting survival are needed. The aim of our study was to evaluate isocitrate dehydrogenase 1 and 2 (IDH1, IDH2), telomerase reverse transcriptase (TERT), O-6- methylguanine-DNA methyltransferase (MGMT) and alpha-thalassemia/mental retardation, X-linked (ATRX) genes with next-generation sequencing (NGS) to find potential pathological mutations and their effect on survival. MATERIALS AND METHODS: Thirty patients who had undergone craniotomy and were diagnosed with high-grade glioma were evaluated for this study. Peripheral blood samples were obtained from all participants. IDH1, IDH2, TERT, MGMT and ATRX genes were evaluated with next-generation sequencing from the samples. Survival analysis evaluated the effects of all these mutations on survival. RESULTS: The median age of the patients was 58.5 (range=11- 74) years, and 56.7% (n=17) were under 60 years of age. According to sex, male patients comprised 66.7%. Targeted NGS detected 21 chromosomal aberrations. When more than three chromosomal anomalies were accepted as a reference, anomaly in three or fewer chromosomes negatively affected overall survival (hazard ratio=2.83). CONCLUSION: Targeted NGS generates therapeutically meaningful information, providing better prognostic information than conventional histology. Our study shows that NGS provides important information on survival by helping to detect chromosomal changes that can be detected in routine blood samples. It is clear that incorporating molecular diagnostics into our standard-of-care routine will help us better understand our patients' outcomes.

The Role of PPAR-gamma C161T Polymorphism in Colorectal Cancer Susceptibility.

BACKGROUND/AIM: This study aimed to determine the role of the peroxisome proliferator-activated receptor-gamma (PPARg) C161T genotype and allele frequencies in predisposition to colorectal cancer (CRC). PATIENTS AND METHODS: PPARg C161T (His447His; rs3856806) gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis in patients with CRC (n=101) and controls (n=238). RESULTS: The T161 allele (CT+TT genotypes) of PPARg C161T polymorphism was associated with CRC development (p<0.001; OR=3.239, 95%CI=1.997-5.252). Subgroup analysis showed that the T161 allele was associated with a 3.056-fold increased risk for colon cancer (CC) (p<0.001; 95%CI=1.709-5.464) and 3.529-fold increased risk for rectal cancer (RC) (p<0.001; 95%C=1.784-6.981). Frequencies of the T161 allele were also higher in total CRC and CC patients with poorly differentiated tumors (p<0.001, c2=30,601, OR=3.109; 95%CI=1.970-4.906 and p<0.001, Fisher exact test, respectively). CONCLUSION: PPARg T161 allele carriers have increased risk for developing CRC.

Serum miRNA-582-5p and miRNA-363 as Potential Non-Invasive Biomarkers for Glioblastoma Multiforme.

AIM: To determine expression levels of miRNA-582-5p and miRNA-363 in serum of patients with Glioblastoma Multiforme and assess their biomarker potential. MATERIAL AND METHODS: The study population consisted of 71 subjects including 35 patients and 36 healthy controls. Realtime polymerase chain reaction was used to determine serum expression levels of miRNA-582-5p and miRNA-363 in patients and control individuals. Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic potential of miRNA-582-5p and miRNA-363. Serum caspase-9 level was measured using enzyme-linked immunosorbent assay. RESULTS: Normalized expression levels of miRNA-582-5p and miRNA-363 were calculated using the 2-ΔΔCt method. We found that miRNA-582-5p and miRNA-363 were significantly upregulated in patients compared with healthy controls. High levels of miRNA- 582-5p (Fold change 2.86, p < 0.0001) and miRNA-363 (Fold change 3.51, p < 0.0001) were significantly associated with Glioblastoma Multiforme. Additionally, ROC analyses demonstrated that levels of miRNA-582-5p [area under the curve (AUC)=0.938, p=0.0001] and miRNA-363 [AUC=0.951, p=0.0001] were significantly different between the groups. In contrast, there was no correlation between levels of serum caspase-9 and those of miRNA-582-5p (p=0.144) or miRNA-363 (p=0.050). CONCLUSION: High serum levels of miRNA-582-5p and miRNA-363 are associated with Glioblastoma Multiforme, and are potential biomarkers.

Evaluation of Asymmetric Dimethylarginine Levels in Patients With Chronic Thromboembolic Pulmonary Hypertension Undergoing Pulmonary Endarterectomy.

BACKGROUND: Chronic thromboembolic pulmonary hypertension (CTEPH) is a form of pulmonary embolism, and pulmonary endarterectomy (PEA) is the surgical treatment. Asymmetric dimethylarginine (ADMA) levels are increased in pulmonary hypertension. This study aimed to investigate serum ADMA levels in patients with CTEPH, the effect of PEA on ADMA, and its prognostic value in long-term mortality. METHOD: Eighty (80) patients with CTEPH and 32 healthy controls were included. Preoperative serum ADMA levels, determined using an enzyme-linked immunosorbent assay, were compared between patients with CTEPH and controls. Of 80 patients, 64 had PEA. Pre- and 6-month postoperative serum ADMA levels, 6-minute walk distance (6MWD), and haemodynamic parameters were collected from patients undergoing PEA. Patients were followed-up for survival analysis. RESULTS: Mean ± standard deviation serum ADMA levels were significantly higher in patients with CTEPH compared with controls (0.79±0.32 µmol/L vs 0.52±0.12 µmol/L; p=0.0001). Statistically significant differences were observed between preoperative and postoperative serum ADMA levels (0.78±0.30 µmol/L vs 0.62±0.22 µmol/L; p=0.0001), 6MWD (p=0.0001), and pulmonary vascular resistance (p=0.0001) in 60 patients who underwent and survived PEA. The decrease in serum ADMA levels and increase in 6MWD were significantly correlated (r=-0.286, p=0.027). No other correlation was found. Perioperative mortality was 6.3%, and the survival rate with a mean follow-up of 34.57±8.20 months was 93.3%. Patients with serum ADMA levels >0.8 µmol/L had a significantly lower survival rate (logrank: 5.86; p=0.015). CONCLUSIONS: Levels of circulating ADMA might add diagnostic and prognostic information in CTEPH. Pulmonary endarterectomy is associated with an improvement in serum ADMA levels. Preoperative serum ADMA levels may be useful for estimating the outcome of PEA.

Kallikrein 11 Down-regulation in Breast Carcinoma: Correlation With Prognostic Parameters.

BACKGROUND: Expression of kallikrein-11 (KLK11) has been found to be related to the prognosis of various human cancer types but its physiological functions in the steps of breast cancer (BC) progression are still unknown. MATERIALS AND METHODS: BC and adjacent normal breast tissue samples were collected from 28 patients. KLK11 expression levels were determined by real-time polymerase chain reaction for each sample and associations with known prognostic features were statistically analyzed. RESULTS: Although there was slight up-regulation in tumor tissues overall, significant down-regulation of KLK11 expression in tumor tissue was observed in the elderly and in patients with perineural invasion. Furthermore, tumor size, grade, mitotic score, necrosis, calcification, lymphatic invasion, hormone receptor status and Ki67 expression were associated with altered KLK11 level. CONCLUSION: Changes in expression levels of KLK11, associated with patient characteristics, might be used as complementary data in order to predict clinical outcome and prognosis in BC.

The Role of Kallikrein10 (KLK10) Polymorphism in Prostate Cancer Susceptibility.

PURPOSE: The present study aims to investigate the potential role of Kallikrein 10 (KLK10) genotype and allele frequencies in predisposition to prostate cancer. MATERIALS AND METHODS: KLK10 (rs7259451) gene polymorphisms were determined by real-time polymerase chain reaction analysis in patients with prostate cancer (n=69) and controls (n=76). RESULTS: KLK10 gene frequencies were significantly different in the case and control groups (P = .028). GG carriers were significantly higher in the control group (P = .034), whereas TT carriers were higher in the prostate cancer group (P = .033). Furthermore, The patients with GG genotype had the lowest PSA levels while TT carriers had the highest (P = .005). CONCLUSION:  According to the results, we suggested that carrying variant T allele and also carrying homozygote TT genotype could be a potential risk, while ancestral homozygote GG genotype and G allele are risk reducing factors for prostate cancer.

Melatonin Improves Reduced Activities of Membrane ATPases and Preserves Ultrastructure of Gray and White Matter in the Rat Brain Ischemia/Reperfusion Model.

Ischemia/reperfusion (I/R) is among the most frequent neurological problems and early intervention to limit the damage is crucial in decreasing mortality and morbidity. Based on reports regarding beneficial effects of melatonin, we investigated its impact on Na+-K+/Mg2+ ATPase and Ca2+/Mg2+ ATPase activities and ultrastructure of gray and white matter in the rat forebrain I/R model. Adult Wistar-albino rats (n = 78), were randomized into control, ischemia (I), ischemia/reperfusion (I/R), low (I/R + melatonin 400 µg/kg), moderate (I/R + melatonin 1200 µg/kg), and high (I/R + melatonin 2400 µg/kg) dose melatonin. Two-vessel occlusion combined with hypotension (15 min) induced ischemia and reperfusion (75 min) achieved by blood reinfusion were performed. Activities of the membrane-bound enzyme, brain malondialdehyde levels, and brain matter ultrastructure were examined in frontoparietal cortices. Melatonin lowered production of malondialdehyde in a dose-dependently. The enzyme activities attenuated under I and I/R, improved with melatonin treatment. I and I/R severely disturbed gray and white matter morphology. Melatonin, in all applied doses, decreased ultrastructural damages in both gray and white matter. Favorable effects of melatonin can be attributed to its antioxidant properties suggesting that it could be a promising neuroprotective agent against I/R injury being effective both for gray and white matter due to favorable biological properties.

Investigation of Circulating miRNA-133, miRNA-26, and miRNA-378 as Candidate Biomarkers for Left Ventricular Hypertrophy.

BACKGROUND/AIM: Left ventricular hypertrophy (LVH) involves increased muscular mass of the left ventricle due to increased cardiomyocyte size and is caused by cardiomyopathies. Several microRNAs (miRNAs) have been implicated in processes that contribute to heart disease. This study aimed to examine miRNA-133, miRNA-26 and miRNA-378 as candidate biomarkers to define prognosis in patients with LVH. PATIENTS AND METHODS: The study group consisted of 70 patients who were diagnosed with LVH and 16 unaffected individuals who served as the control group. Real-time polymerase chain reaction (RT-PCR) was used to analyze serum miRNA-133, miRNA-26, and miRNA-378 expression levels in LVH patients and the control group. Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic capability of miRNA-378. RESULTS: When crossing threshold (CT) values were compared between patient and control samples, we found that there were no statistically significant differences in miRNA-133 and miRNA-26 CT values, while the miRNA-378 expression was significantly increased in LVH patients. ROC analysis demonstrated that the expression levels of miRNA-378 (AUC=0.484, p=0.0013) were significantly different between groups. CONCLUSION: We observed a statistically significant relationship between miRNA-378 expression levels and LVH, suggesting that circulating miRNA-378 may be used as a novel biomarker to distinguish patients who have LVH from those who do not.

Investigation of Catechol-O-methyltransferase (COMT) gene Val158Met polymorphism in ovarian cancer

Objective: Catechol-O-methyltransferase (COMT), the product of the COMT gene, detoxifies the carcinogenic catechol estrogens. The aim of the present study was to examine the relationship between COMT Val158Met polymorphism and the risk of ovarian cancer. Material and Methods: The study groups consist of 94 individuals as a patients group with ovarian cancer (n=47) and control group (n=47). The allele and genotype frequencies were determined according to Hardy-Weinberg equilibrium (HWE). The allele and genotype frequencies. determined according to HWE. Genetic analysis were performed by real-time-polymerase chain reaction instrument, and the statistical analysis were performed by SPSS program. Results: Although no significant relationship was obtained among groups (p=0.413) regarding COMT gene Val158Met polymorphism, the genotype frequencies for COMT Val158Met (rs4860) polymorphism in groups was homozygote wild type GG genotype 25.5%, heterozygote GA genotype 46.8%, homozygote mutant AA genotype 27.7%. Conclusion: This study is the first to investigate the relationship between ovarian cancer and the Val158Met polymorphism in the COMT gene in a Turkish population. No statistically significant relationship was identified among genotypes belonging to the patient and control groups although sample sizes were relatively small and the analysis should be repeated in a larger cohort.

5-Alfa reductase type 2 (SRD5A2) gene rs523349 polymorphism is not associated with non-obstructive azoospermia in Turkish patients.

Spermatogenesis is an androgen-dependent event, and testosterone is the major androgen source. The enzyme 5-alpha reductase converts testosterone to dihydrotestosterone (DHT) in testicular and peripheral tissues. Polymorphisms in genes encoding 5-alpha reductase may be associated with impaired male fertility. The present study aimed to investigate the relationship between 5-alpha reductase type 2 (SRD5A2) gene rs523349 polymorphism and non-obstructive azoospermia (NOA) in Turkish patients. The study included 75 NOA patients and 43 fertile men from Turkey. No significant relationship was found between SRD5A2 gene rs523349 polymorphism and male infertility (P = 0.071). There was a statistically significant difference in total testosterone level and total testis volume between NOA patients and the control groups, however there was no significant difference between serum follicle-stimulating hormone and luteinizing hormone levels. Our results showed that SRD5A2 gene rs523349 polymorphism was not associated with NOA in Turkish patients.

Investigation of the Effects of MicroRNA-221 Expression Levels in Glioblastoma Multiforme Tumors.

BACKGROUND/AIM: The aim of our study was to examine miRNA-221 as a candidate biomarker to define prognosis and/or classification for glial tumors. MATERIALS AND METHODS: This study included 39 patients who underwent glial tumor surgery and 40 healthy individuals as the control group. miRNA expression levels were determined by real-time polymerase chain reaction (RT-PCR). Receiver operating characteristic curve analysis was used for analyzing the predictive ability of miRNA-221. RESULTS: The levels of miRNA-221 expression were determined by comparing the ΔCT values of miRNAs and the internal control. When the expression levels of miRNA-221 were compared according to the ΔCT method, miRNA-221 was found to be significantly increased in the patient group compared to the control group (p<0.0001). CONCLUSION: Increased expression levels of miRNA-221 could be a biomarker for glial tumors.

Potential Protective Role of SDF-1 and CXCR4 Gene Variants in the Development of Dementia.

BACKGROUND: The aim of this study was to evaluate the role of polymorphisms of stromal cell-derived factor-1 (SDF-1) and chemokine receptor-4 (CXCR4) genes in dementia susceptibility in a Turkish population. SUBJECTS AND METHODS: The study group included 61 dementia patients, while the control group comprised 82 healthy individuals. Gene polymorphisms of SDF-1 3'A G801A (rs1801157) and CXCR4 C138T (rs2228014) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: A significantly reduced risk for developing dementia was found for the group bearing an A allele for SDF-1 3'A polymorphism (p=0.009; χ2=6.812; OR=0.626; 95%CI= 0.429-0.913). The frequency of the CXCR4 TT and TC genotype was significantly lower in patients with dementia compared to controls (p=0.028; χ2=5.583; OR=0.215; 95%CI=0.05-0.914); (p=0.027; χ2=4.919; OR=0.484; 95% CI=0.246-0.955). Additionally, combined genotype analysis showed that the frequency of SDF1 GA-CXCR4 CC was significantly lower in patients with dementia in comparison with those of controls (p=0.049; OR=0.560; 95% CI= 0.307±1.020). CONCLUSIONS: Our study provides new evidence that SDF1 A and CXCR4 T alleles may be associated with a decreased dementia risk. The present study is important because to our knowledge, it is the first one to be conducted in a Turkish population to date, but we believe that more patients and controls are needed to obtain statistically significant results.

Investigation of Caspase 9 Gene Polymorphism in Patients With Non-small Cell Lung Cancer.

BACKGROUND/AIM: Non-small cell lung cancer (NSCLC) is one of the most common forms of lung cancer and the leading cause of cancer-related deaths in the world. Caspase 9 (CASP9) plays a central role in the intrinsic apoptotic pathway. The aim of the study was to investigate the role of caspase 9 gene polymorphism in patients with non-small cell lung cancer. MATERIALS AND METHODS: The study included 96 NSCLC cases and 67 controls. CASP9 Ex5+32 G>A polymorphism was investigated by real-time polymerase chain reaction. RESULTS: There was a significant difference between the groups in the frequency of CASP9 genotypes (p=0.008). The number of the carriers of the ancestral GG genotype, was significantly higher in the NSCLC group than in the control (p=0.009). The heterozygote GA genotype and mutant A allele frequency were significantly higher in the control group compared to the NSCLC group (p=0.005, p=0.009, respectively). Serum CASP9 levels were significantly lower in the patients group than in the control group (p<0.0001). CONCLUSION: CASP9 Ex5+32 GG genotype was a risk factor whereas the variant A allele could be a risk-reducing factor for NSCLC.

Characteristics of Coronary Artery Disease Patients Who Have a Polymorphism in the Cholesterol Ester Transfer Protein (CETP) Gene.

BACKGROUND/AIM: Cholesterol ester transfer protein (CETP) is responsible for the transformation of high density lipoprotein (HDL) to low density lipoprotein (LDL) and is a risk factor for atherosclerosis. Our study investigated the association of the rs5883 CETP gene polymorphism with HDL and LDL levels, in 45 coronary artery disease patients and 45 control patients. MATERIALS AND METHODS: CETP gene polymorphism was detected using Real Time-Polymerase Chain Reaction (RT-PCR). Lipoprotein levels were measured using Quantimetrix system. RESULTS: There were lack of associaition regarding CETP polymorphism in atherosclerosis and HDL and LDL levels (p>0.05) BMI was higher among coronary artery disease patients (CADP) compared to the control group (28.97±6.38, 26.52±4.39 respectively, p<0.03). Frequency of CADP (82.6 %, n=19) who were taking treatment was higher (17.4 %, n=4) (p<0.00). The frequencies of hypertension and type-2 diabetes were higher among CADP (p<0.00). Families of CADP have more CADP (p<0.02). Small HDL particle levels were higher in the control group (p<0.00). CONCLUSION: In Turkey, BMI, and frequencies of hypertension and type-2 diabetes were higher among CADP than among healthy controls. Furthermore, the genotypes of the rs5883 CETP gene polymorphism did not differ between CADP and healthy controls.