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P4–004: Association study of late‐onset Alzheimer's disease risk variants and memory decline
Author(s) -
Carrasquillo Minerva,
Crook Julia,
Pedraza Otto,
Pankratz Ver,
Allen Mariet,
Nguyen Thuy,
Malphrus Kimberly,
Ma Li,
Bisceglio Gina,
Roberts Rosebud,
Lucas John,
Ivnik Robert,
Machulda Mary,
GraffRadford Neill,
Petersen Ronald,
Younkin Steven,
ErtekinTaner Nilufer
Publication year - 2013
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.2013.05.1392
Subject(s) - single nucleotide polymorphism , minor allele frequency , covariate , genome wide association study , allele , demography , trem2 , medicine , oncology , psychology , biology , genetics , genotype , statistics , gene , mathematics , sociology , microglia , inflammation
genome-wide significant locus, we identified 18 suggestive loci (p<1x10 -5). Ingenuity pathway analyses revealed canonical pathways mainly involved in neuronal functions, e.g. axonal guidance signalling and longterm synaptic potentiation. We also assessed the biological impact of the gene most strongly associated with plasma Ab-42 levels (cortexin 3, CTXN3) on APP metabolism in vitro and found that the gene protein was able to modulate Ab 1-42 secretion.Conclusions:Our study results suggest that plasma Ab peptide levels are valid endophenotypes in GWASs and can be used to characterize the metabolism and functions of APP and its metabolites.