ArticleJournal of medical genetics2007
Is alpha-T catenin (VR22) an Alzheimer's disease risk gene?
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Common and rare variant analyses implicateNPJ dementia · 2026Article
- Genome-wide scan of Flortaucipir PET levels findsmedRxiv : the preprint server for health sciences · 2024Article
- Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.JAMA neurology · 2013Article
- LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD).PloS one · 2013Article
- Effect of genetic variation in LRRTM3 on risk of Alzheimer disease.Archives of neurology · 2012Article
- Alpha T-catenin (CTNNA3): a gene in the hand is worth two in the nest.Cellular and molecular life sciences : CMLS · 2011Review
- A three-stage genome-wide association study of general cognitive ability: hunting the small effects.Behavior genetics · 2010Article
- An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009Article
- Review
- A genomic scan for age at onset of Alzheimer's disease in 437 families from the NIMH Genetic Initiative.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008Article
- Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.Genetic epidemiology · 2008Article
- Genetics of Alzheimer's disease: a centennial review.Neurologic clinics · 2007Review
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundRecently, conflicting reports have been published on the potential role of genetic variants in the alpha-T catenin gene (VR22; CTNNA3) on the risk for Alzheimer's disease. In these papers, evidence for association is mostly observed in multiplex families with Alzheimer's disease, whereas case-control samples of sporadic Alzheimer's disease are predominantly negative.
methodsAfter sequencing VR22 in multiplex families with Alzheimer's disease linked to chromosome 10q21, we identified a novel non-synonymous (Ser596Asn; rs4548513) single nucleotide polymorphism (SNP). This and four non-coding SNPs were assessed in two independent samples of families with Alzheimer's disease, one with 1439 subjects from 437 multiplex families with Alzheimer's disease and the other with 489 subjects from 217 discordant sibships.
resultsA weak association with the Ser596Asn SNP in the multiplex sample, predominantly in families with late-onset Alzheimer's disease (p = 0.02), was observed. However, this association does not seem to contribute substantially to the chromosome 10 Alzheimer's disease linkage signal that we and others have reported previously. No evidence was found of association with any of the four additional SNPs tested in the multiplex families with Alzheimer's disease. Finally, the Ser596Asn change was not associated with the risk for Alzheimer's disease in the independent discordant sibship sample.
conclusionsThis is the first study to report evidence of an association between a potentially functional, non-synonymous SNP in VR22 and the risk for Alzheimer's disease. As the underlying effects are probably small, and are only seen in families with multiple affected members, the population-wide significance of this finding remains to be determined.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.