Background/Aim: The present study aimed to investigate the role of an aggrecan (ACAN) gene variant and proteoglycan levels in the risk of lumbar degenerative disc disease (LDDD). Materials and Methods: A total of 108 patients with LDDD and 103 healthy controls were enrolled. Molecular assessment of the ACAN gene (c.6423T>C) variant was determined by real time-polymerase chain reaction. Proteoglycan levels in serum were measured with enzyme-linked immunosorbent assay. Results: The frequency of all alleles and genotypes in all study groups were distributed according to the Hardy-Weinberg equilibrium. In addition, no association between the ACAN gene (c.6423T>C) variant and presence of risk factors for LDDD was detected. However, proteoglycan levels were significantly lower in patients with LDDD compared to the control group (p<0.00001). Conclusion: Our findings suggest that proteoglycan has emerged as a potential novel biomarker which might be used for prediction of LDDD risk.

The purpose of this study was to investigate whether functional polymorphisms of apoptosis pathway genes FAS and FASL are associated with the development of primary brain tumors. The study constituted 83 patients with primary brain tumor and 108 healthy individuals. In the present case-control study, the primary brain tumors were divided into two groups: gliomas and meningiomas. Evaluation of FAS -1377 G/A and FASL -844 T/C gene polymorphisms were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). To confirm the genotyping, results were examined by DNA sequencing method. Our results were analyzed by SPSS. The frequency of the FAS -1377 AA genotype was significantly lower in meningioma and glioma patients compared to controls (p = 0.023; p = 0.001, respectively). Multivariate logistic regression analysis revealed that FAS -1377 AA genotype was associated with decreased risk of meningioma and glioma (OR = 0.092, 95% CI: 0.012-0.719, p = 0.023 for meningiomas; OR = 0.056, 95% CI: 0.007-0.428, p = 0.006 for gliomas). However, there was no significant differences in FASL -844 T/C genotype frequencies between patients with primary brain tumors and controls (p > 0.05). In this study, combined genotypes were evaluated for association with primary brain tumors. Combined genotype analysis showed that the frequencies of AATC and AACC were significantly lower in glioma patients in comparison with those of controls (p = 0.023; p = 0.022, respectively). This study provides the first evidence that FAS -1377 AA genotype may have a protective effect on the developing primary brain tumor in a Turkish population.

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; 2 =6.812; OR=0.626;). The frequency of the CXCR4 TT and TC genotype was significantly lower in patients with dementia compared to controls (p=0.028; 2 =5.583; OR=0.215; 95%CI=0.05-0.914); (p=0.027; 2 =4.919; OR=0.484;. 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.

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E4 allele can be associated with PD as an eligible risk factor, the E3/E3 could be a risk-reducing factor for PD. Patients with PD not only had lower LDL and HDL levels but also they have higher atherogenic LDL and HDL subfractions. Also, E3/E3 genotype carriers had convenient but ApoE4 carriers had atherogenic plasma cholesterol levels and subfractions.