Article ; Online: Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease.
2017 Volume 649, Page(s) 124–129
Abstract: Several variants in the gene ABCA7 have been identified as potential causal variants for late-onset Alzheimer's disease (LOAD). In order to replicate these findings, and search for novel causal variants, we performed targeted sequencing of this gene in ... ...
Abstract | Several variants in the gene ABCA7 have been identified as potential causal variants for late-onset Alzheimer's disease (LOAD). In order to replicate these findings, and search for novel causal variants, we performed targeted sequencing of this gene in cohorts of non-Hispanic White (NHW) and African-American (AA) LOAD cases and controls. We sequenced the gene ABCA7 in 291 NHW LOAD cases and 103 controls. Variants were prioritized for rare, damaging variants and previously reported variants associated with LOAD, and were follow-up genotyped in 4076 NHW and 1157 AA cases and controls. We confirm three previously associated ABCA7 risk variants and extend two of these associations to other populations, an intronic variant in NHW (P=3.0×10 |
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MeSH term(s) | ATP-Binding Cassette Transporters/genetics ; African Americans/genetics ; Alzheimer Disease/genetics ; European Continental Ancestry Group/genetics ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Introns ; Male ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA |
Chemical Substances | ABCA7 protein, human ; ATP-Binding Cassette Transporters |
Language | English |
Publishing date | 2017-04-08 |
Publishing country | Ireland |
Document type | Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural |
ZDB-ID | 194929-9 |
ISSN | 1872-7972 ; 0304-3940 |
ISSN (online) | 1872-7972 |
ISSN | 0304-3940 |
DOI | 10.1016/j.neulet.2017.04.014 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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