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2013 Abstracts

APOE e4 Independent Associations in the APOE Gene Region with Cerebrospinal Fluid Levels of Amyloid Beta 42 in Alzheimer’s Disease

Spencer Foutz, Brigham Young University

Biology

CSF AB42 levels are a biomarker for Alzheimer’s Disease. The APOE e4 allele associates with CSF AB42. Little is known about SNPs in the region independent of apoe e2/e3/e4 isoforms. By adjusting for the effect of these isoforms, statistical analysis uncovered new SNPS associated with CSF AB42. Information was used from 1338 individuals from four datasets, specifically: The WU-ADRC, ADNI, University of Washington, and UPENN. Samples included individuals with and without AD. The 169 SNPs used were extracted from the APOE region and surrounding 50 kb using 1000 Genome Software. Linear regression analysis was performed, adjusting for specific covariates. Adjustments were made for the APOE e2 and e4 alleles before repeating the analysis. Significant SNPs were tested in e3 homozygous individuals. Each series was separately analyzed and combined in a meta-analysis for confirmation. P-values, sample sizes, and effect sizes were used in the meta-analysis. Results from these analyses allowed us to conclude rs769449 is associated with lower levels of CSF AB42 and acts independent of the APOE e4 allele.