title: Association of the C47T Polymorphism in SOD2 with Amnestic Mild Cognitive Impairment and Alzheimer's Disease in Carriers of the APOEε4 Allele.
abstract: Oxidative stress plays an important part in amnestic mild cognitive impairment (aMCI), the prodromal phase of Alzheimer's disease (AD). Recent evidence shows that polymorphisms in the SOD2 gene affect the elimination of the reactive oxygen species (ROS) generated in mitochondria. The aim of this study was to determine whether the functional rs4880 SNP in the SOD2 gene is a risk factor associated with aMCI and sporadic AD. 216 subjects with aMCI, 355 with AD, and 245 controls have been studied. The SNP rs4880 of the SOD2 gene was genotyped by RT-PCR and the APOE genotype was determined by PCR and RFLPs. Different multinomial logistic regression models were used to determine the risk levels for aMCI and AD. Although the T allele of the SOD2 rs4880 SNP gene (rs4880-T) is not an independent risk for aMCI or AD, this allele increases the risk to aMCI patients carrying at least one APOEε4 allele. Moreover, rs4880-T allele and APOEε4 allele combination has been found to produce an increased risk for AD compared to aMCI reference patients. These results suggest that APOEε4 and rs4880-T genotype may be a risk for aMCI and a predictor of progression from aMCI to AD.
authors.affiliation: BIOMICS Research Group, Department of Zoology and Cellular Biology A, Lascaray Research Center (CIEA), University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, 01006 Alava, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Gamarra
authors.affiliation: BIOMICS Research Group, Department of Zoology and Cellular Biology A, Lascaray Research Center (CIEA), University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, 01006 Alava, Spain.
authors.forename: Xabier
authors.initials: X
authors.lastname: Elcoroaristizabal
authors.affiliation: Department of Neurology, Hospital Universitario Cruces, BioCruces Health Research Institute, Barakaldo, 48093 Bizkaia, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Fernández-Martínez
authors.affiliation: BIOMICS Research Group, Department of Zoology and Cellular Biology A, Lascaray Research Center (CIEA), University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, 01006 Alava, Spain.
authors.forename: Marian M
authors.initials: MM
authors.lastname: de Pancorbo
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics*; D016022:Case-Control Studies; D060825:Cognitive Dysfunction / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D013482:Superoxide Dismutase / Q000235:genetics*; D000099156:Superoxide Dismutase 2
chemical_list: D053327:Apolipoprotein E4; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2