%0 Journal Article
%A Barabash Bustelo, Ana
%A Marcos Dolado, Alberto
%A Ancín Martínez-Zaporta, Inés
%A Vázquez-Alvarez, Blanca
%A de Ugarte, Carmen
%A Gil Gregorio, Pedro
%A Fernández Pérez, Crsitina
%A Encinas, Marta
%A López-Ibor Aliño, Juan José
%A Cabranes Díaz, José Antonio
%T APOE, ACT and CHRNA7 genes in the conversion from amnestic mild cognitive impairment to Alzheimer's disease
%D 2009
%@ 0197-4580
%U https://hdl.handle.net/20.500.14352/114840
%X We have investigated whether the −86 C/T promoter polymorphism in CHRNA7 gene, the signal peptide polymorphism of the  1-antichymotripsin (ACT) gene or the APOE genotype are associated with an increased risk of mild cognitive impairment (MCI) or affect therisk of evolution to Alzheimer’s disease (AD).We have followed up 89 patients with initial diagnoses of amnestic MCI for 49 months. Patientswere separated into three groups: 27 subjects who remained with MCI, 40 that converted to AD before 20 months and 22 that converted to ADafter. To assess the risk associated to each genotype a control group (n = 90) without cognitive impairment was included. APOE4 allele wasassociated with an increased risk of MCI (OR: 6.04, 95% CI: 2.76–3.23; p < 0.001) but did not have an effect on the probability of evolvingAD. ACT or CHRNA7 genotypes were not associated with MCI but both appear to modify the risk of progression to dementia in opposingmanners: ACT polymorphism increasing the risk to evolve to AD before 20 months (HR = 2.03; 95% CI: 1–4.6; p = 0.06) and CHRNA7polymorphism protecting from evolution to dementia. Cox regression model demonstrated that ACT genotype confers a higher risk of rapidevolution to dementia than age or years of schooling. We conclude that APOE is a risk gene for amnestic MCI and that ACT and CHRNA7may act in these patients as modifier genes for the time of progression to AD.
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