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An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.

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De Roeck, Arne Duchateau, Lena Van Dongen, Jasper Cacace, Rita Bjerke, Maria Ivanoiu, Adrian [UCL]

Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer's disease (AD). The influence of other genetic variants in ABCA7 and downstream functional mechanisms, however, is poorly understood. To address this knowledge gap, we investigated tandem repetitive regions in ABCA7 in a Belgian cohort of 1529 AD patients and control individuals and identified an intronic variable number tandem repeat (VNTR). We observed strong association between VNTR length and a genome-wide associated signal for AD in the ABCA7 locus. Expanded VNTR alleles were highly enriched in AD patients [odds ratio = 4.5 (1.3-24.2)], and VNTR length inversely correlated with amyloid β in cerebrospinal fluid and ABCA7 expression. In addition, we identified three novel ABCA7 alternative splicing events. One isoform in particular-which is formed through exon 19 skipping-lacks the first nucleotide binding domain of ABCA7 and is abundant in brain tissue. We observed a tight correlation between exon 19 skipping and VNTR length. Our findings underline the importance of studying repetitive DNA in complex disorders and expand the contribution of genetic and transcript variation in ABCA7 to AD.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2018
Language Anglais
Journal information "Acta neuropathologica" - Vol. 135, no. 6, p. 827-837 (2018)
Peer reviewed yes
Publisher Springer Verlag ((Germany) Berlin)
issn 0001-6322
e-issn 1432-0533
Publication status Publié
Affiliations UCL - SSS/IONS - Institute of NeuroScience
UCL - SSS/IONS/NEUR - Clinical Neuroscience
UCL - (SLuc) Service de neurologie
MESH Subject ATP-Binding Cassette Transporters ; Aged ; Aged, 80 and over ; Alternative Splicing ; Alzheimer Disease ; Biomarkers ; Brain ; Exons ; Female ; Gene Expression ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Introns ; Male ; Middle Aged ; Minisatellite Repeats ; Prospective Studies ; Protein Isoforms
Keywords ATP-Binding Cassette ; Sub-Family A ; Member 7 (ABCA7) ; Alternative splicing ; Alzheimer’s disease ; Cerebrospinal fluid (CSF) biomarkers ; Variable number tandem repeat (VNTR)
Links
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Permanent URL http://hdl.handle.net/2078.1/221766