Previous studies suggest that genetic variants in CHRNA7, which encodes for the major subunit of the acetylcholine receptor (α7-nAChR), are associated with the clinical response to cholinesterase inhibitors (ChEI) in Alzheimer's disease (AD) patients. We sought to replicate the association of two SNPs in the CHRNA7 gene, rs6494223 and rs8024987, with response to ChEI treatment in an Italian cohort of 169 AD patients, further extending the study to gene-level analysis. None of the tested variants was associated with clinical response. However, rs6494223 showed a consistent effect direction (OR=1.4; p=0.17), which after meta-analysis with previous study yielded a significant result (OR=1.57, p=0.02, I2=0).

CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients / Clarelli, F.; Mascia, E.; Santangelo, R.; Mazzeo, S.; Giacalone, G.; Galimberti, D.; Fusco, F.; Zuffi, M.; Fenoglio, C.; Franceschi, M.; Scarpini, E.; Forloni, G.; Magnani, G.; Comi, G.; Albani, D.; Martinelli Boneschi, F.. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 52:4(2016), pp. 1203-1208. [10.3233/JAD-160074]

CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients

Mascia E.;Santangelo R.;Mazzeo S.;Comi G.;
2016-01-01

Abstract

Previous studies suggest that genetic variants in CHRNA7, which encodes for the major subunit of the acetylcholine receptor (α7-nAChR), are associated with the clinical response to cholinesterase inhibitors (ChEI) in Alzheimer's disease (AD) patients. We sought to replicate the association of two SNPs in the CHRNA7 gene, rs6494223 and rs8024987, with response to ChEI treatment in an Italian cohort of 169 AD patients, further extending the study to gene-level analysis. None of the tested variants was associated with clinical response. However, rs6494223 showed a consistent effect direction (OR=1.4; p=0.17), which after meta-analysis with previous study yielded a significant result (OR=1.57, p=0.02, I2=0).
2016
Alpha7 nicotinic acetylcholine receptor
Alzheimer's disease
biomarkers
cholinesterase inhibitors
pharmacogenetics
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/171476
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