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The gene encoding alpha-T-catenin, CTNNA3, is positioned within a region on chromosome 10, showing strong evidence of linkage to Alzheimer's disease (AD), and is therefore a good positional candidate gene for this disorder. We have demonstrated that alpha-T-catenin is expressed in human brain, and like other alpha-catenins, it inhibits Wnt signaling and is therefore also a functional candidate. We initially genotyped two single-nucleotide polymorphisms (SNPs) in the gene, in four independent samples comprising over 1200 cases and controls but failed to detect an association with either SNP. Similarly, we found no evidence for association between CTNNA3 and AD in a sample of subjects showing linkage to chromosome 10, nor were these SNPs associated with Abeta deposition in brain. To comprehensively screen the gene, we genotyped 30 additional SNPs in a subset of the cases and controls (n > 700). None of these SNPs was associated with disease. Although an excellent candidate, we conclude that CTNNA3 is unlikely to account for the AD susceptibility locus on chromosome 10.

Original publication

DOI

10.1385/NMM:5:2:133

Type

Journal article

Journal

Neuromolecular Med

Publication Date

2004

Volume

5

Pages

133 - 146

Keywords

Aged, Aged, 80 and over, Alternative Splicing, Alzheimer Disease, Amyloid beta-Peptides, Animals, Brain, Brain Chemistry, Case-Control Studies, Cell Line, Chromosome Mapping, Chromosomes, Human, Pair 10, Cytoskeletal Proteins, DNA Mutational Analysis, Female, Gene Expression, Gene Frequency, Genetic Linkage, Genetic Testing, Genotype, Humans, Male, Mice, Polymorphism, Genetic, Proto-Oncogene Proteins, Signal Transduction, Wnt Proteins, alpha Catenin