The association of epidermal growth factor variant with oral squamous cell carcinoma.

In this study, our aim was to investigate the epidermal growth factor (EGF) and epidermal growth factor receptor (EGFR) gene polymorphisms in oral squamous cell carcinoma (OSCC) patients and non-OSCC healthy controls. This case-control study comprised 89 OSCC and 107 healthy controls by using polymerase chain reaction (PCR) and restriction fragment length polymorphism methods, the genotypes for EGF + 61 A > G (rs4444903) and EGFR R497K (rs2227983) were analyzed. According to the EGF + 61 A > G genotype distribution, individuals with the GG genotype were more prevalent in the OSCC group when compared to the healthy controls. But the AA genotype frequency was significantly higher in the healthy control group. The frequency of G allele carriers was 2.3 times higher than A allele carriers in OSCC patients (p < .001). For the EGFR R497K genotype, there was no significant difference between the OSCC and healthy control groups. Regarding the study results, the G allele of EGF + 61 A > G polymorphism was associated with OSCC. Larger populations and functional investigations should be used to explore the nature of the interaction between EGF and OSCC.

Identification of copy number alternation profiles in metastatic oral squamous carcinoma patients by using microarray-based comparative genomic hybridization: A study on Turkish patients.

OBJECTIVE: Oral squamous cell carcinoma (OSCC) is a severe form of cancer affecting different anatomic sites of the oral cavity. OSCC ranks as the sixth most common cancer type with an increasing prevalence globally. However, the mechanisms of OSCC process at later stages are not well understood. In this study, we aimed to determine genetic alternations in metastatic OSCC patients to identify genomic changes occurred at metastatic phase of the disease. MATERIAL AND METHODS: The Illumina CytoSNP-12 Array was used to determine copy number variations in OSCC cancer genome. Hybridization procedures were performed according to the manufacturer procedures (Illumina). Arrays were scanned on iScan System (Illumina). Data were analyzed using Illumina Genotyping module of Genome Studio software (version 1.2, Illumina). Multiple CNV algorithms and copy number alternations were accessed by Genome Studio. CNVs in whole genome were investigated by using a chromosomal heat map. RESULTS: We reported that gains in 8q21.11-ter, 9p21.3, 13q14.11-ter, 13q13.3-ter and losses in 5q14.3-ter, 5q35 and 17p13.3-12 were associated with the development of OSCC. In addition, we also detected that deletion in 2q33.2-ter and 2q35-37.3 regions were also associated with OSCC metastasis process. CONCLUSIONS: Our results were also showed that gains in 11q13.3-q13.4 and 2q13.2 chromosomal regions could promote the metastatic OSCC process. We believe that results of the study will help to find new biomarkers for diagnosis at later stage of OSCC.

The analysis of Survivin promoter (-31G/C) gene variation in oral squamous cell carcinoma risk and prognosis.

BACKGROUND/AIM: Oral squamous cell carcinoma (OSCC) is a malign tumor that associated with smoking and alcohol consumption, eating habits, environmental factors, and genetic susceptibility of the individuals. The Survivin gene, also known as BIRC5, plays important roles in the regulation of the cell cycle and apoptosis. The aim of the present study is to investigate Survivin -31G/C polymorphism in OSCC development and prognosis. MATERIALS AND METHODS: A total of 61 patients with oral squamous cell carcinoma and 133 healthy individuals were genotyped by using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method (PCR-RFLP) to evaluate the role of the Survivin gene promoter region (-31) variation. RESULTS: There were no statistically significant differences in the distribution of Survivin promoter -31 polymorphism genotype and allele frequencies between the cases and controls but we analyzed the clinicopathological characteristics of patients and noticed a significant correlation between the C allele and advanced tumor stage in the patients (p = 0.022). CONCLUSION: The Survivin (-31) gene polymorphism might be associated with advanced tumor stage in oral squamous cell carcinoma but further studies in a larger population are needed most effective evaluation of the Survivin (-31) gene variation in the OSCC risk and prognosis.

What if amoxicillin/clavulanic acid reduces the cisplatin anticancer impact on oral cancer treatment?

Antibiotics-chemotherapeutics combination have become on the table for many cancer treatments. For this reason, we thought that further progress and development of studies to support chemotherapeutic approaches with the use of antibiotics may be beneficial in the clinical field. Cell lines (SCC-15, HTB-41, and MRC-5) were treated with 5-100 µM/ml concentrations of cisplatin (cisp) and amoxicillin/clavulanic acid (amx/cla) with combination (amx/cla-cisp) and alone in three different incubation periods. The all-cells viability was examined with WST-1 and apoptotic activity of the drugs were investigated via cell death ELISA assay kit. The cytotoxic impact of the 100 µM amx/cla-cisp combination was found to be reduced by up to 21.8%, which was significant given that the cytotoxic effect of only cisplatin therapy was 86.1%. Because our findings demonstrated that solo amx/cla therapy have almost no impact on proliferation or death, we focused on the amx/cla-cisp combination effect. It was found that the amx/cla-cisp combination has reduced the apoptotic fragment when comparing with the solely cisp-treated cells. Due to amx/cla-cisp combination on both cells but significantly on SCC-15 recovered the sole cisplatin effect, we believe that there might be a second thought when prescribing antibiotics while treating cancer patients. Not only the antibiotic's type but also the cancer type might interact to lessen the chemotherapeutic agent's impact which is clinically a dilemma to focus on.

Betulinic acid may modulate autophagy in renal cell carcinoma cells.

OBJECTIVES: Betulinic acid is pentacyclic triterpenoid known to exert antitumor effects by modulating many cellular pathways in various human malignancies. However, its modulatory role in autophagy in renal cell carcinoma remains unclear. Here, we observed how betulinic acid affects autophagy in renal cell carcinoma cells. METHODS: After treating cells with betulinic acid, we determined the gene expression and protein levels of Beclin-1 and ATG-5 by qPCR and ELISA assay to observe its effects on autophagy. RESULTS: The qPCR results demonstrated that Beclin-1 expression level was low in untreated metastatic renal adenocarcinoma ACHN cells and increased in response to 25 µM and 50 µM betulinic acid treatment. ATG-5 expression level was decreased in primary clear cell renal cell carcinoma CAKI-2 cells treated with 50 µM betulinic acid. In the ELISA assay results, we observed that betulinic acid caused a decrease in Beclin-1 protein level at 25 µM concentration and in ATG-5 protein level at 50 µM concentration in CAKI-2 cells. CONCLUSION: In our preliminarily study, it was concluded that the role of autophagy may differ in renal cell carcinoma cells depending on their origin and that the effects of betulinic acid on autophagy in these cells may vary accordingly (Fig. 4, Ref. 40). Text in PDF www.elis.sk Keywords: betulinic acid, autophagy, kidney, cancer, cell.

The inhibitory effect of betulinic acid on epithelial-mesenchymal transition pathway in renal cell carcinoma.

Renal cancer is the most lethal urological cancer and characterized by high metastasis rate at initial diagnosis and drug resistance to current chemotherapeutics. Betulinic acid is a pentacyclic triterpene with broad biological activity that occurs naturally in variety of plants. Even though the anti-cancer efficacy of betulinic acid have been reported by many studies, the information about the pathways and the molecules which are affected by betulinic acid in renal cancer are limited. Epithelial-mesenchymal transition (EMT) is considered as the initial step of metastasis and contributes to drug resistance of cancer cells. Depending on the role of EMT in cancer progression and drug resistance, targeting EMT may represent an effective strategy in this context. Therefore, we aimed to investigate the anti-metastatic effects of betulinic acid on renal cell carcinoma cells by evaluating two EMT markers, SNAIL-1, and SDC-2. Following the treatment of betulinic acid at determined doses by WST-1 cytotoxicity assay in our previous study, SDC-2 expression level was decreased in both cell lines. Additionally, in correlation with this result, we also found a reduction in SDC-2 and SNAIL-1 protein levels which are measured by ELISA. Furthermore, the migration and invasion capacities were suppressed by betulinic acid treatment in metastatic renal adenocarcinoma ACHN cells. Taken together, our findings indicate that betulinic acid may constitute a potential treatment approach for renal cancer with further investigations.

Effects of betulinic acid on AKT/mTOR pathway in renal cell carcinoma.

OBJECTIVE: Renal cancer is the most lethal among urological cancer. Treatments of renal cell carcinoma (RCC) may be possible by immune checkpoint inhibitors and drug treatment targeting different molecules. We aimed to determine the apoptotic effect of betulinic acid and its effects on expressions of apoptosisassociated genes AKT-1 and mTOR in RCC cells. MATERIAL AND METHODS: In this study, we investigated the apoptotic activity of betulinic acid in CAKI-2 cell line and its effect on AKT-1 and mTOR gene expression levels. In order to do so, following analyses were conducted: WST-1 to identify the toxic effect of betulinic acid, Caspase-3/BCA to detect caspase enzyme activity, Annexin-V and ELISA to determine for apoptotic effect, and finally, real-time PCR for expression levels of AKT-1 and mTOR. RESULTS: Our study showed that different concentrations of betulinic acid induced apoptosis in renal cancer; however, no effect was observed in healthy cells. In gene expression analysis, there was statistically significant decrease in AKT-1 expression level while increasing mTOR expression level. CONCLUSION: We suggested that betulinic acid with its apoptotic effect on RCC line and nontoxic effect on healthy cell line and the effects on AKT/mTOR pathway may be a potential anticancer drug promising for future studies.

Apoptotic effects of acacetin in human colon cancer HT-29 and HCT 116 cells.

AIM: Acacetin is a natural flavone compound, which is found in several plants as Robinia pseudoacacia and is demonstrated to have anticancerogenic activities in many types of cancer (e.g., human nonsmall cell lung cancer, and prostate). Colorectal carcinoma (CRC) is one of the serious health problems and is a complex disease. We intended to find a more effective new candidate for the treatment of colon cancer, and hence, we designed this study to investigate the effects of acacetin on CRC (HT-29, HCT 116) in vitro. METHODS: The study was carried out with the methods that determine for apoptosis (WST-1, Caspase 3/BCA, Annexin V). RESULTS: Acacetin showed antitumor and apoptosis-inducing effects in the CRC cell lines. CONCLUSIONS: Acacetin was effective on CRC cell lines, besides no lethal effect on healthy lung cells (MRC-5).

The apoptotic efficacy of succinic acid on renal cancer cell lines.

Recently, studies on the effects of non-toxic substances on cancer prophylaxis have gained value as an alternative to existing treatment options. Current studies have shown that succinic acid or its derivatives exhibit anticancer activity by inducing apoptosis. We aimed to investigate the anticancer activity of succinic acid on renal cancer for the first time in the literature. The cytotoxic activity of succinic acid on CAKI-2 and ACHN as renal cancer cell lines and MRC-5 as a healthy cell line was determined using the WST-1 cytotoxicity test. Apoptotic activity was measured by Annexin V test and cell death ELISA kit. The results showed that 25 µM and 50 µM doses of succinic acid for 24 h remarkably reduced the cell viability for CAKI-2 cells (89.77% and 90.77%) and ACHN cells (41.57% and 54.54%). Also, no significant effect was observed on the healthy cell line, as we expected. Additionally, administration of succinic acid at same doses resulted in apoptotic activity for ACHN cells (19.1 and 12.7) and CAKI-2 cells (19.85 and 29.55). ELISA results with same doses of succinic acid treatment increased the apoptotic fragment rates by 4.7 and 2.13-fold in CAKI-2 cells, and 32.92, 12.7-fold in ACHN cells. Succinic acid is a focal point for cancer treatments not only for its apoptotic success on cancer cells but also for its capacity to be metabolically active for humans. Our results suggest that succinic acid could be a potential therapeutic agent for individual cancer treatment approaches together with further molecular research.

An association of the MCP-1 and CCR2 gene polymorphisms with oral lichen planus.

OBJECTIVE: The purpose of this study was to investigate the frequency of monocyte chemoattractant protein (MCP)-1 CCR2 gene polymorphisms in Turkish patients with oral lichen planus (OLP). STUDY DESIGN: A cohort of 50 patients with OLP and 142 control participants without OLP were recruited to investigate the frequency of MCP-1 and CCR2 gene polymorphisms. Chi-square and Fisher's exact tests were used. Student t test and analysis of variance were used to compare demographic data between groups. RESULTS: The MCP AA genotype was less common in the patient group (52%) than in the control group (66.2%; odds ratio [OR] = 0.553; 95% confidence interval [CI], 0.287-1.065; P = .075). The MCP G allele was higher in the patient group (48%) than in the control group (33.8%; OR = 1.808; 95% CI, 0.939-3.479; P = .075). The frequency of the MCP GG genotype was observed to be higher in the patient group (4%) than in the controls (0.7%; OR: 5.875, 95% CI:0.521-66,24; p = 0.106). The CCR2 64I64I genotype was more common in the patient group (6%) than in the control group (2.8%). All results were not statistically significant. CONCLUSION: We suggest that the G allele of MCP-1 and 64I64I genotype of CCR2 polymorphisms do not pose an increased risk for Turkish patients with OLP to develop oral squamous cell carcinoma.

Association of CDH1 -160 C → A and -347 G→ GA polymorphisms and expression of E-cadherin and gastric cancer: A case-control study.

OBJECTIVES: The loss of function of the E-cadherin (CDH1) gene with -160 C→A and -347 G→GA polymorphisms is regarded as a critical step for gastric cancer. It was aimed to investigate possible association of these polymorphisms and immunoexpression of E-cadherin with gastric cancer. MATERIAL AND METHODS: Gastric adenocarcinoma patients and individuals with benign gastric pathologies were included in this case-control study. Demographic data and pathological findings were recorded. Immunohistochemical staining of E-cadherin expression and analysis of -160 C→A and -347 G→GA polymorphisms were done. Differences between allele frequencies of -160 C→A and -347 G→GA polymorphisms and expression of E-cadherin were the primary outcomes. RESULTS: There were 78 gastric cancer patients (Group A) and 113 individuals with benign gastric pathologies (Group B). The number of male patients and mean age were higher in Group A (p <0.001). -160 C→A and 347 G→GA polymorphisms and their allelic distributions showed no difference between the groups (p> 0.05 for all). There was a significant association between -160 C→A polymorphism and grade of E-cadherin expression (p= 0.013). There were no significant differences between survival rates with -160 C→A, 347 G→GA and intensity of E-cadherin expression (p> 0.05 for all). There was no significant association between -160 C→A and -347 G→GA polymorphisms and gastric cancer. CONCLUSION: There was no impact of E-cadherin expression on tumoral features and survival in gastric cancer. -160 C→A polymorphism may influence the expression of E-cadherin in gastric cancer.

Levofloxacin might be safe to use for OSCC patients.

Oral squamous cell carcinoma patients are exhausted against the powerful chemotherapies, radiotherapies after the surgery, and their immune system is devastated during the process and antibiotic usage become inescapable. Although prescribing an antibiotic might be fraught for such as drug interaction and undesirable proliferation danger, studies still look for the new ideas such as antibiotic combinations that might be safe to use. The antiproliferative and apoptotic outcomes of levofloxacin with cisplatin combination as well as their single usage were examined with WST-1, Caspase-3/BCA and Annexin V methods on SCC-15 cells and a healthy cell line (MRC-5). 24 h treatment of 50 mM single levofloxacin, 50 mM single cisplatin and 50 mM levofloxacin-cisplatin combination resulted in viability rates of SCC-15 cells as 90%, 67% and 80.8%, respectively. Caspase-3 enzyme activity was enhanced 0.92-fold for single levofloxacin, 13.05-fold for single cisplatin and 9.73-fold for the combination of levofloxacin-cisplatin, the total apoptotic activity of single levofloxacin, single cisplatin and levofloxacin-cisplatin combination were observed as 4.88%, 21.14%, 16.21%, respectively on SCC-15. The apoptotic effect of cisplatin on MRC-5 has been shown to be suppressed when combined with levofloxacin. Considering the cell viability, caspase-3, and apoptotic activity results, it's conclude that the levofloxacin-cisplatin combination was also effective compared to the only cisplatin treatment on OSCC cells. The combination has shown less toxicity for healthy cells than single cisplatin treatment. Therefore, our apoptotic findings suggest that the different dosage combinations are necessary to understand the interaction for the treatment of tongue squamous cell carcinoma.

In Vitro Inhibitory Effect of Succinic Acid on T-Cell Acute Lymphoblastic Leukemia Cell Lines.

BACKGROUND AND AIMS: Although several treatment regimens for T-cell acute lymphoblastic leukemia (T-ALL), trouble is still ongoing that relapse of disease after therapies in both pediatric and adult patients. Hence, the demand for new alternative therapeutics that are antiproliferative for cancer cells but do not harm healthy cells in treatments is increasing day by day. This study aimed to investigate whether succinic acid show anti-proliferative and apoptotic effect of on T-ALL cell lines. METHODS: Time and dose-dependent effects of succinic acid on T-ALL cell lines were determined by using WST-1, caspase-3/ bicinchoninic acid (BCA), and Annexin V-Fluorescein isothiocyanate (FITC) assays. We included the MRC-5 cell line in our study as a healthy control group. RESULTS: Based on our findings, 25 and 50 mmol dosages of succinic acid has shown an apoptotic effect on T-ALL cell lines for 48 h treatment. Also, it has shown that after 48 h exposure of 25 and 50 mmol dosages of succinic acid has no significant cytotoxic effect in healthy MRC-5 cells. Apoptotic activity of succinic acid on CCRF-CEM cell line was caspase-3 dependent but not for MOLT-4. As a consequence, succinic acid was found to effect for T-ALL treatment in vitro and might also enlighten new study fields for different cancer experiments.

G protein gene variants in schizophrenia

Abstract Background Various studies demonstrating enhanced vulnerability to apoptosis may contribute to the pathobiology of schizophrenia. Objective Thus, G proteins may provide an intriguing link between the signal transduction, and apoptotic hypotheses of schizophrenia. In the light of these findings, we investigated whether G protein gene polymorphisms (GNAS1-T393C and GNB3-C825T) accounted for an increased risk of schizophrenia. Methods The present analyses were based on 100 subjects diagnosed with schizophrenia, and on 100 unrelated healthy controls. The genotyping of GNAS1-T393C, and GNB3-C825T gene polymorphisms were performed using the polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). Results: We demonstrated the positive association of GNB3-C825T gene variants with schizophrenia risk (p: 0.023). In our study, more prevalent CC genotype frequencies were detected in GNB3 in patients compared with the frequencies in the controls. The individuals with GNB3-C825T CC genotype had 2 fold increased risk for schizophrenia (p: 0.011, c2: 6.39, OR:2.14, 95% CI: 1.18-3.90). Discussion Our study results suggested that GNB3-C825T polymorphism might be associated with schizophrenia.

Investigation of resistin 420 and 62 gene polymorphism in patients with endometrial cancer.

OBJECTIVE: We aimed to assess resistin gene polymorphisms, namely 420C > G and 62G > A and their effect on the risk of endometrial cancer (EC). MATERIALS AND METHODS: Between January 2012 and January 2015, of the total of 183 patients diagnosed with EC, 94 patients were enrolled into the study. Patients with diabetes mellitus, hypertension and history of any other cancer were excluded. To identify the importance of nucleotide polymorphism including 420C > G and 62G > A in the resistin gene, 94 healthy volunteers were included as the control group. RESULTS: Among the Resistin 420 gene polymorphism profiles, 420 GC (47.9%) was the most common gene polymorphism in the EC group. Also, the polymorphism of 420 CC (57.7%, p: 0.002) lead the list in the control group followed by the 420GC (37.5%) polymorphism. Resistin 62 gene polymorphism analysis demonstrated that the 62GC polymorphism was significantly more common in the EC group (p < 0.01), while 62 AG (52.9%) was observed most frequently in the control group bringing about a reduction in the risk of EC (p < 0.01, Odds Ratio:0.37). Additionally, the alleles of 420G+ and 62A + were significantly more common in the EC group and the control group, respectively (p:0.02 and p<:0.01). Multivariate regression analysis revealed that the presence of 420G + allele increased the EC risk 1.99 fold while the presence of 62A + allele was shown to decrease the risk of EC (p<:0.01 Odds Ratio:0.038). CONCLUSION: Our study for the first time had demonstrated that Resistin 420G > C and 62G > A gene polymorphisms play a role in EC development.

The COX2 genetic variants in oral squamous cell carcinoma in Turkish population.

Oral squamous cell carcinoma (OSCC) is a common type of cancer that genetic and environmental factors also lifestyle habits, infections play important roles in the pathogenesis of disease. Cyclooxygenase 2 (COX2) is the inducible isoform of enzyme which convert arachidonic acid to prostaglandins. It was known that alterations in COX2 gene functions contribute to the inflammation process thus induce cancer progression, including cell proliferation, apoptosis, adhesion, invasion and metastasis. A total of 114 cases 165 healthy individuals were included in present study. We aimed to evaluate possible association between the COX2; -765, -1195 polymorphisms and the risk of OSCC. The genotypes were determined by using polymerase chain reaction restriction fragment length polymorphism techniques. In our study group the carriers of COX2 -765 C allele were statistically higher in patients compared with controls and individuals who had CC genotype had a 3,4 fold high risk for OSCC (p <0,05). We also observed the COX2 -1195 AA genotype frequency was higher in cases that of healthy group and individuals who had AA genotype showed a 1,7 fold increased risk for OSCC (p < 0,05). Haplotype analysis confirmed our result and revealed that the frequencies of COX2 -765C, -1195A haplotype frequencies were significantly higher in patients as compared with those of controls. In conclusion we suggest that COX2, -765, -1195 polymorphisms appear to be an important predictive factor and may be a prognostic biomarker for risk of OSCC. Further investigations with larger study groups are needed to fully elucidate the role of COX2 -765, -1195 variations in the development of OSCC.

ROS related enzyme levels and its association to molecular signaling pathway in the development of head and neck cancer.

Given the prevalence and annual incidence of cancer, head and neck cancer is affecting more than 600,000 people each year. In this research, it was decided to investigate that which genes are involved and how MPO, NQO1, SOD2 enzyme levels effective to develop of head and neck cancer and for the first time at the tissue level. 35 tumor tissues in all head and neck anatomy and their surrounding tissue (70 in total) were enclosed the research that received surgery. Determination of the apoptosis genes expression levels (Mtch1, Akt1, Caspase3, Caspase9, Bcl2, Mdm2, mTOR) were determined by RT-PCR techniques and the same patients' sample used for ROS associated oxidant-antioxidant system by using MPO, NQO1, SOD2 enzyme levels using ELISA method. According to statistical results, caspase 9 gene was found statistically high expressed in early stage in contrast to late stage (p=0,013). Level of SOD2, NQO1 and MPO was determined and only MPO level was found significantly important on tumor tissues p=0,008).  Specially, our findings for high expression of Cas9 on early stage were thought to be the target for treatment with its well-known initiator role of the apoptosis. Our results suggest that the higher level of MPO in tumor tissues and indicates that it has some role on pathology of head and neck cancers. We believe that, our research will lead the proposal in-vivo studies and will open new areas on therapeutic targets.

An answer to colon cancer treatment by mesenchymal stem cell originated from adipose tissue.

OBJECTIVES: Colon cancer is risen up with its complex mechanism that directly impacts on its treatment as well as its common prevalence. Mesenchymal stem cells (MSCs) have been considered as a therapeutic candidate for conventional disease including cancer. In this research, we have focused on apoptotic effects of adipose tissue-derived MSCs in colon cancer. MATERIALS AND METHODS: MSCs were obtained from adipose tissue and characterized by Flowcytometer using suitable antibodies. MSCs, HT-29, HCT-116, RKO and healthy cell line MRC5 were cultured by different seeding procedure. After cell viability assay, changes in caspase 3 enzyme activity and the level of phosphatidylserine were measured. RESULTS: For cell viability assay, a 48 hr incubation period was chosen to seed all cells together. There was a 1.36-fold decrease in caspase 3 enzyme activity by co-treatment of RKO and MSCs in addition to 2.02-fold decrease in HT-29 and MSCs co-treatment, and 1.103-fold increase in HCT-116 and MSCs. The results demonstrated that HCT-116 led to the highest rate of apoptotic cell death (7.5%) compared with other cells. CONCLUSION: We suggest that MSCs might remain a new treatment option for cancer by its differentiation and repair capacity.

Relation of MPO, MnSOD, NQO1 gene variants in endometrial carcinoma in the line of PCR-RFLP methods.

Reactive oxygen species (ROS) have been shown to be responsible for inducing DNA damage leading to mutagenesis, carcinogenesis, and cell death if the capacity of the protective antioxidant system is impaired. Endometrial carcinoma is the primary cancer type in the female genital system. The enhanced cell lipid peroxidation and impaired antioxidant enzyme activities observed in patients with endometrial cancer indicate the potential for oxidative injury to cells and cell membranes in such patients. The aim of the study was to investigate the possible association between gene variants of superoxide dismutase (SOD), myeloperoxidase (MPO), and NADPH quinone oxido reductase (NQO1), and their possible role in endometrial cancer in Turkish patients. According to results, MPO G+ genotype and AG genotype were significantly increased in patients compared with controls (P<0.001). We suggest that the MPO polymorphism might be a risk for endometrial cancer.

An Investigation of SDF1/CXCR4 Gene Polymorphisms in Autism Spectrum Disorder: A Family-Based Study.

OBJECTIVE: Autism spectrum disorders (ASD) have a complex pathophysiology including genetic, inflammatory and neurodevelopmental components. We aim to investigate the relationship between ASD and gene polymorphisms of stromal cell-derived factor-1 (SDF-1) and its receptor CXC chemokine receptor-4 (CXCR4), which may affect inflammatory and neurodevelopmental processes. METHODS: 101 children diagnosed with ASD aged 2-18 and their biological parents were included in the study. All participants were assessed using an information form and the Children were assessed using Childhood Autism Rating Scale (CARS). SDF-1 G801→A and CXCR4 C13→T polymorphisms were detected by genetic techniques. The results were evaluated using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR). RESULTS: Following TDT evaluation for CXCR4, the assumption of equality was not rejected (χ2=1.385, p=0.239). HRR for the C allele was 1.037 [HRR (95%CI)=0.937 (0.450-2.387), χ2=0.007, p=0.933] and HRR for the T allele was 0.965 [HRR (95%CI)=0.965 (0.419- 2.221), χ2=1.219, p=0.270], but the findings were statistically insignificant. Based on TDT evaluation for SDF1, the assumption of equality cannot be rejected (χ2=0, p=0.999). HRR for the A allele was 0.701 [HRR (95%CI)=0.701 (0.372-1.319), χ2=1.219, p=0.270] and HRR for the G allele was 1.427 [HRR (95%CI)=1.427 (0.758-2.686), χ2=1.219, p=0.270], but the findings were statistically insignificant. CONCLUSION: The genetic screening of blood samples from mother, father and child trios could not show a significant association between SDF1/CXCR4 genes and ASD on the basis of TDT and HRR tests. More extensive genetic studies are now needed to investigate the relationship between SDF1/CXCR4 gene polymorphisms and ASD.