Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families.
J Med Genet
; 42(11): 857-62, 2005 Nov.
Article
em En
| MEDLINE
| ID: mdl-16272261
ABSTRACT
OBJECTIVES:
Several studies suggested chromosome 12 harbours an Alzheimer's disease (AD) risk factor gene. Significant association of a single nucleotide polymorphism (SNP) in the 3' UTR of transcription factor CP2 (LBP-1c/CP2/LSF or TFCP2) at 12q13 was reported in three independent case-control studies, but no family based analyses have been performed to date.METHODS:
Genotypes for three SNPs were generated in two independent AD family samples. A meta-analysis on all published case-control studies was also performed.RESULTS:
The A allele of the 3' UTR SNP was associated with increased risk for AD in one sample (odds ratio (OR) 2.1, 95% confidence interval (95% CI) 1.1 to 4.3), but not in the other, possibly due to low power. Haplotype analyses showed that this allele is part of a putative risk-haplotype overtransmitted to affected individuals in one sample and in both samples combined. Meta-analysis of the previously associated 3' UTR SNP showed a trend towards a protective effect of the A allele in AD (OR 0.73, 95% CI 0.5 to 1.1).CONCLUSIONS:
This is the first study to examine LBP-1c/CP2/LSF in AD families, and the fifth to independently show significant association. While our results support a role of this gene in AD pathogenesis, the direction of the effect remains uncertain, possibly indicating linkage disequilibrium with another variant nearby.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Predisposição Genética para Doença
/
Proteínas de Ligação a DNA
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Doença de Alzheimer
Tipo de estudo:
Etiology_studies
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
/
Systematic_reviews
Limite:
Humans
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article