Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

Two multicentre genome-wide association (GWA) studies provided substantial evidence, implicating the complement receptor 1 gene ( CR1 ) in Alzheimer disease (AD) genetic etiology. CR1 encodes a large transmembrane receptor with a crucial role in the immune complement cascade. We performed a genetic...

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Veröffentlicht in:	Molecular psychiatry 2012-02, Vol.17 (2), p.223-233
Hauptverfasser:	Brouwers, N, Van Cauwenberghe, C, Engelborghs, S, Lambert, J-C, Bettens, K, Le Bastard, N, Pasquier, F, Montoya, A Gil, Peeters, K, Mattheijssens, M, Vandenberghe, R, De Deyn, P P, Cruts, M, Amouyel, P, Sleegers, K, Van Broeckhoven, C
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult and adolescent clinical studies Aged Aged, 80 and over Alzheimer Disease - cerebrospinal fluid Alzheimer Disease - genetics Alzheimer's disease Amyloid beta-Peptides - cerebrospinal fluid Apolipoprotein E4 - genetics Apolipoproteins Behavioral Sciences Binding sites Biological and medical sciences Biological Psychology Biomarkers Brain diseases Cohort Studies Complement Factor I - metabolism Confidence intervals Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Development and progression DNA Copy Number Variations - genetics Female Gene Frequency Genetic aspects Genome-Wide Association Study Genomes Genotype Haplotypes Health risk assessment Humans Logistic Models Male Medical sciences Medicine Medicine & Public Health Meta-Analysis as Topic Molecular weight Neurology Neurosciences Odds Ratio Organic mental disorders. Neuropsychology Original original-article Peptide Fragments - cerebrospinal fluid Peptides Pharmacotherapy Physiological aspects Polymorphism, Single Nucleotide - genetics Proteins Psychiatry Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Receptors, Complement - genetics Risk factors Segmental Duplications, Genomic Single nucleotide polymorphisms tau Proteins - cerebrospinal fluid
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Zusammenfassung:	Two multicentre genome-wide association (GWA) studies provided substantial evidence, implicating the complement receptor 1 gene ( CR1 ) in Alzheimer disease (AD) genetic etiology. CR1 encodes a large transmembrane receptor with a crucial role in the immune complement cascade. We performed a genetic follow-up of the GWA CR1 association in a Flanders–Belgian cohort ( n =1883), and investigated the effect of single-nucleotide polymorphisms (SNPs) located in the CR1 locus on AD risk and cerebrospinal fluid (CSF) biomarker levels. We obtained significant association ( P adj
ISSN:	1359-4184 1476-5578
DOI:	10.1038/mp.2011.24