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P1‐054: LINKAGE ANALYSES OF EXTENDED CARIBBEAN HISPANIC FAMILIES INDICATES NOVEL LOCI ASSOCIATED WITH FAMILIAL LATE‐ONSET ALZHEIMER'S DISEASE
Author(s) -
Reitz Christiane,
Cheng Rong,
Kunkle Brian W.,
Beecham Gary,
PericakVance Margaret Ann,
Farrer Lindsay A.,
Haines Jonathan,
Schellenberg Gerard D.,
Mayeux Richard
Publication year - 2014
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.2014.05.290
Subject(s) - psen1 , locus (genetics) , genetics , penetrance , genetic linkage , biology , haplotype , allele , disease , presenilin , alzheimer's disease , medicine , gene , phenotype
phosphorylated at threonine 181 (P-tau 181P) were available for 204 patients. The effect of AAO and CSF biomarker profiles on the olfactory receptor CNV was assessed in a univariate analysis of variance. Results: The assay identified a CNV spanning 156 kb including the genes OR4M1, OR4N2, OR4K2, OR4K5 and OR4K. Only multiplications of this gene region where identified in AD patients, ranging from 2 to 5 copies. A significant difference in AAO was found between AD patients with a high (mean AAO 77.268.8 years) and a low olfactory receptor copy number (mean AAO 74.868.9; P1⁄40.02). Furthermore, CSF levels of Ab 1-42 were associated with a high olfactory receptor copy number in AD patients. Conclusions: Our data imply that AD patients with a low olfactory copy number have an earlier AAO of disease. These findings are in contrast with a previous published report, however we were able to identify an effect of the olfactory receptor CNV. The olfactory receptor cluster might potentially be a modifier locus of AAO in AD. Further studies can elucidate the impact of the olfactory receptor CNVand might play an important role in the early detection of disease.