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P4–005: CNTN5 and ARID5B are associated with enthorinal cortex volume and thickness in healthy individuals in several ethnic groups
Author(s) -
Tosto Giuseppe,
Reitz Christiane,
Brickman Adam,
Stern Yaakov,
Manly Jennifer,
Schupf Nicole,
Mayeux Richard
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.2013.05.1393
Subject(s) - single nucleotide polymorphism , entorhinal cortex , biology , brain size , snp , medicine , hippocampus , neuroscience , endocrinology , gene , genetics , magnetic resonance imaging , radiology , genotype
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.