Metadata Files list Metadata language English Polski Title: Tag polymorphisms of genes coding enzymes of antioxidant defense system as risk factors of Alzheimer’s disease in Polish population Author: Porębska, Karolina Subject: oxidative stress ; Alzheimer’s disease ; polymorphism Abstract: Objective: Alzheimer’s disease (AD) is a degenerative disease of the central nervous system and its main symptoms are disorders of cognitive functions that gradually lead to loss of independence. Oxidative stress is an imbalance between the intensity of reactions leading to generation of reactive oxygen species (ROS) and the reactions related with their removal. Oxidative stress plays an important role in Alzheimer’s disease etiopathogenesis. We evaluated association between chosen tag single nucleotide polymorphisms (SNPs) of the enzymes of the antioxidant defense system (ADS) and risk of AD.Methods: We included 400 AD patients and 402 healthy controls. We studied rs1041740, rs4998557 and rs2070424 of the SOD1 gene, rs2855116, rs5746136 and rs4880 of the SOD2 gene and rs3448, rs1050450 and rs1800668 of the GPx-1 gene (real time PCR). Bonferroni correction have set p-value for this study at 0.005.Results: Among all studied SNPs only rs2070424 of the SOD1 gene was a protective factor for AD in an additive (OR=0.47; 95%CI=0.30-0.74, p=0.001) and recessive (OR= 0.47; 95%CI=0.30-0.75, p=0.002) models including age, gender and APOE gene status.Conclusions: rs2070424 polymorphism of the SOD1 gene is a risk factor for AD in Polish population. Place of publishing: Kraków Level of degree: 2 - studia doktoranckie Degree discipline: neurologia ; genetyka Degree grantor: Wydział Lekarski Promoter: Słowik, Agnieszka Date: 2013 Date issued: 2012 Type: Praca doktorska Call number: ZB-118667 Language: pol Access rights: nieograniczony