Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.
- Authors
- Li, Yonghong; Hollingworth, Paul; Moore, Pamela; Foy, Catherine; Archer, Nicola; Powell, John; Nowotny, Petra; Holmans, Peter; O'Donovan, Michael; Tacey, Kristina; Doil, Lisa; van Luchene, Ryan; Garcia, Veronica; Rowland, Charles; Lau, Kit; Cantanese, Joseph; Sninsky, John; Hardy, John; Thal, Leon; Morris, John C; Goate, Alison; Lovestone, Simon; Owen, Michael; Williams, Julie; Grupe, Andrew
- Year
- 2005
- Journal
- Human mutation
- PMID
- 15714520
- DOI
- 10.1002/humu.20138
Alzheimer disease (AD) is a complex neurodegenerative disorder predisposed by multiple genetic factors. Mutations in amyloid beta precursor protein (APP) are known to be associated with autosomal dominant, early onset familial AD and possibly also late onset AD (LOAD). A number of genes encoding proteins capable of binding to APP have been identified, but their contribution to AD pathobiology remains unclear. Conceivably, mutations in these genes may play a role in affecting AD susceptibility, which appears to be substantiated by some genetic studies. Here we report results of the first genetic association study with APBB2, an APP binding protein (also known as FE65L), and LOAD, in three independently collected case-control series totaling approximately 2,000 samples. Two SNPs were significantly associated with LOAD in two sample series and in meta-analyses of all three sample sets (for rs13133980: odds ratio [OR](hom)=1.36 [95% CI: 1.05-1.75], OR(het)=1.32 [95% CI: 1.04-1.67], minor allele frequency=43%, P=0.041; and for hCV1558625: OR(hom)=1.37 [95% CI: 1.06-1.77], OR(het)=1.02 [95% CI: 0.82-1.26], minor allele frequency=48%, P=0.026). One of these SNPs, located in a region conserved between the human and mouse genome, showed a significant interaction with age of disease onset. For this marker, the association with LOAD was most pronounced in subjects with disease onset before 75 years of age (OR(hom)=2.43 [95% CI: 1.61-3.67]; OR(het)=2.15 [95% CI: 1.46-3.17]; P=0.00006) in the combined sample set. Our data raise the possibility that genetic variations in APBB2 may affect LOAD susceptibility.
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| Early Life Stress and Epigenetics in Late-onset Alzheimer's Dementia: A Systematic Review. | Lemche E | β | 2018 | β |
| Neurodegenerative Diseases: Regenerative Mechanisms and Novel Therapeutic Approaches. | Hussain R et al. | β | 2018 | β |
| Unraveling the genes implicated in Alzheimer's disease. | Giri M et al. | β | 2017 | β |
| Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis. | Zhong X et al. | β | 2016 | β |
| Adapting simultaneous analysis phylogenomic techniques to study complex disease gene relationships. | Romano JD et al. | β | 2015 | β |
| Identification of radiation-induced aberrant hypomethylation in colon cancer. | Bae JH et al. | β | 2015 | β |
| Role of long purine stretches in controlling the expression of genes associated with neurological disorders. | Singh HN et al. | β | 2015 | β |
| Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways. | Gelernter J et al. | β | 2014 | β |
| APBB2 genetic polymorphisms are associated with severe cognitive impairment in centenarians. | Golanska E et al. | β | 2013 | β |
| The FAS gene, brain volume, and disease progression in Alzheimer's disease. | Erten-Lyons D et al. | β | 2010 | β |
| Lacritin and other new proteins of the lacrimal functional unit. | McKown RL et al. | β | 2009 | β |
| Analysis of APBB2 gene polymorphisms in sporadic Alzheimer's disease. | Golanska E et al. | β | 2008 | β |
| Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease. | Li Y et al. | β | 2008 | β |
| Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. | Grupe A et al. | β | 2007 | β |
| Genetics of late-onset Alzheimer's disease: progress and prospect. | Li Y et al. | β | 2007 | β |
| The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between beta-amyloid production and tau phosphorylation in Alzheimer disease. | Kimura R et al. | β | 2007 | β |
| A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | Grupe A et al. | β | 2006 | β |
| DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. | Li Y et al. | β | 2006 | β |
| Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease. | Li Y et al. | β | 2006 | β |
| Genome scan on Swedish Alzheimer's disease families. | SillΓ©n A et al. | β | 2006 | β |
| High levels of Alzheimer beta-amyloid precursor protein (APP) in children with severely autistic behavior and aggression. | Sokol DK et al. | β | 2006 | β |
| UCHL-1 is not a Parkinson's disease susceptibility gene. | Healy DG et al. | β | 2006 | β |