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; x2=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; x2=5.583; OR=0.215; 95%CI=0.05-0.914); (p=0.027; x2=4.919; OR=0.484; 95% CI= 0.246-0.955). Additionally, combined genotype analysis showed that the frequency of SDF1 GACXCR4 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

DNA Repair Based Therapy in Oncology and Neurodegeneration

WOS: 000378333000015

Relations between human leukocyte antigens and autoimmune hepatitis in Turkish children

Background/aims: We aimed to identify the genetic factors associated with increased tendency toward autoimmune hepatitis, a chronic and progressive inflammatory condition. Methods: A total of 32 children diagnosed with autoimmune hepatitis were included in the present study, and 160 healthy adult blood donors served as controls. In both groups, HLA phenotypes were examined (HLA-A, B, C, DR, DQ) and compared. In addition, the association between the type of autoimmune hepatitis and HLA status was explored. Results: Compared to controls, patients with autoimmune hepatitis had increased frequencies of the following class 1 HLA antigens: A24.9 (28% vs. 9%, p=0.007), A26 (25% us. 3%, p < 0.001), A32 (34% vs. 4%, p < 0.001), B38 (9% vs. 0.6%, p=0.015), and B51 (16% us. 0%, p < 0.001). Among class II HLA antigens, DRB1*04 (22% vs. 0%, p < 0.001), DRB1*07 (9% vs. 0%, p=0.004), DRB1*11 (12% us. 0%, p=0.001), DRB1*15 (25% vs. 0%, p < 0.001), DRB1*14 (31% us. 0%, p < 0.001), and DR11.5 (9% vs. 0%, p=0.004) were more frequent in patients compared to controls. Type 1 autoimmune hepatitis was associated with high frequencies of A24.9, A26, A32, and DRB1*15, whereas type 2 autoimmune hepatitis was associated with high frequencies of A26, B51, B38, and DRB1*11. On the other hand, frequencies of A32 and DRB1*04 were high among patients with unclassified autoimmune hepatitis. Conclusions: There seem to be associations between certain HLA antigens and susceptibility to autoimmune hepatitis, but variations among different geographical locations suggest a role for environmental factors

Role of Caspase-9 Gene Ex5+32 G > A (rs1052576) Variant in Susceptibility to Primary Brain Tumors

Background/Aim: This study is the first to evaluate the relationship of caspase-9 (CASP-9) gene polymorphism with the risk for primary brain tumor development. Materials and Methods: The study group included 43 glioma and 27 meningioma patients and 76 healthy individuals. CASP-9 gene Ex5+32 G>A (rs1052576) polymorphism was analyzed by real-time polymerase chain reaction (RT-PCR). Results: Individuals with the CASP-9 GG genotype had significantly decreased risk of developing a glioma brain tumor (p=0.024). Additionally, the GA genotype was significantly lower in patients with glioma than the control group (p=0.019). A significantly decreased risk of developing glioma was found in the A allele carrier group (p=0.024). However, there was no statistically significant relationship between CASP-9 polymorphism and brain meningioma (p=0.493). Conclusion: CASP-9 (rs1052576) mutant A allele seems to be a protective factor for glioma brain tumor. Future studies with a larger sample size will clarify the possible roles of CASP-9 gene in the etiology and progression of primary brain tumors

Analysis of Toll-like Receptor 9 Gene Polymorphisms in Sepsis

Aim: To analyze the effect of TLR-9 (-1486 T>C) and TLR-9 (C>T) gene polymorphisms both at TLR-9 levels and together with their sepsis parameters. In this regard, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used in order to detect TLR-9 gene polymorphisms, whereas the ELISA technique was used to analyze TLR-9 serum levels in 80 sepsis patients and 100 healthy individuals. Materials and Methods: The study group consisted of 80 patients with a diagnosis of sepsis and 100 healthy individuals. TLR-9 C>T polymorphism was identified by PCR-RFLP. Results: There was no substantial difference observed between sepsis and control groups in terms of TLR-9 (-1486 T>C) and TLR-9 (C>T) genotype and allele distribution. When serum TLR-9 levels were compared to TLR-9 (-1486 T>C) and TLR-9 (C>T) genotype and allele distribution, there was a statistically substantial decrease in TLR-9 serum levels of both TLR-9 (-1486 T>C) TT and TLR-9 (C>T) TT individuals in the sepsis group (p=0.011 and p=0.036, respectively). Conclusion: There is no relation between sepsis and both TLR-9 (C>T) and TLR-9(-1486 T>C) polymorphisms; however, there is a relation between sepsis and decreased serum TLR-9 levels of both TLR-9 (-1486 T>C) TT and TLR-9 (C>T) TT polymorphisms due to sepsis-associated immunosuppression

RRM1 AND RRM2 GENE POLYMORPHISMS IN PATIENTS WITH PRIMARY OVARIAN CANCER

WOS: 000343139500354