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P4‐040: BETA‐AMYLOID SPECIFIC GENOMIC NETWORKS DEFINE CIS AND TRANS RELATIONSHIPS IN PARTICIPANTS WITH ALZHEIMER'S DISEASE
Author(s) -
Brettell Ian,
Vacher Michael,
Porter Tenielle,
Villemagne Victor L.,
Milicic Lidija,
Peretti M.,
Rainey-Smith Stephanie R.,
Fowler Christopher,
Laws Simon M.,
Doecke James D.
Publication year - 2018
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.2018.06.2442
Subject(s) - single nucleotide polymorphism , expression quantitative trait loci , kegg , snp , genetics , gene , biology , genetic association , allele , computational biology , transcriptome , bioinformatics , gene expression , genotype
Val214Leu and Pro287Pro. Conclusions:Among the 22 distinct mutations found in the patients and isolated cases in 3 populations, definite pathogenicity established for only 6%, emphasizing the needs to survey variants in larger patient cohorts. Currently, additional segregation analyses in the family members, as well as targeting deep resequencing in large datasets for validating the role of the variants. Our ADAM group collaborates with international partners across the world to ensure that dementia is recognized as a public health priority at a global level.