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[P2–104]: QUANTITATIVE ASSOCIATION OF CSF AND BRAIN AMYLOID‐BETA PROTEIN LEVELS WITH ALZHEIMER'S DISEASE
Author(s) -
Spaniol Christian,
Hartl Daniela,
Pichler Sabrina,
Mayhaus Manuel,
Riemenschneider Matthias
Publication year - 2017
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2017.06.754
Subject(s) - genetic association , genome wide association study , quantitative trait locus , biology , apolipoprotein e , genotype , dementia , genetics , allele , disease , single nucleotide polymorphism , gene , medicine
Background: We carried out a genome wide association study (GWAS) of w300 Alzheimer’s disease (AD) cases and controls. The cohort was genotyped using Illumina OmniExpress and Exome chips to perform quantitative association studies. Soluble and insoluble Amyloid-Beta (Ab42) were measured from brain tissues; sAPPalpha, sAPPbeta, Ab42 and Ab40 were determined from ventricular CSF protein levels. Methods: Protein levels obtained for AD cases (n 1⁄4 271) and controls (n 1⁄4 72) were associated with the respective genotypes (84 controls, 219 cases). The quantitative association for each phenotype is covered with measures for 222 up to 251 individuals. We carried out a comparative study and implemented a custom implemented workflow pipeline using various tools (Shapeit, Impute2, Plink, Locuszoom, and R respective libraries e.g. QQMan) to scrutinize quantitative associative relationships with the genotypes. The case/control association yielded the expected association of the ApoE variants to AD. Results: For the quantitative study, we found suggestive loci, e.g. in coding regions for soluble and insoluble Ab42 on Chromosome 3, for Ab42/ Ab40 ratios on Chromosome 11, and for the sAPPalpha and sAPPbeta on Chromosome 6 and 10. Conclusions: This study incorporated various APP-processing products used to identify novel putative genotypic associations with AD.