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

Ferdinando Clarelli; E. Mascia; R. Santangelo; Salvatore Mazzeo; Giacomo Giacalone; Daniela Galimberti; Federica Fusco; Marta Ada Maria Zuffi; Chiara Fenoglio; Massimo Franceschi; Elio Angelo Scarpini; Gianluigi Forloni; Giuseppe Magnani; Giancarlo Comi; Diego Albani; Filippo Martinelli Boneschi

doi:10.3233/JAD-160074

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

Ferdinando Clarelli, E. Mascia, R. Santangelo, Salvatore Mazzeo, Giacomo Giacalone, Daniela Galimberti, Federica Fusco, Marta Ada Maria Zuffi, Chiara Fenoglio, Massimo Franceschi, Elio Angelo Scarpini, Gianluigi Forloni, Giuseppe Magnani, Giancarlo Comi, Diego Albani, Filippo Martinelli Boneschi

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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).

Original language	English
Pages (from-to)	1203-1208
Number of pages	6
Journal	Journal of Alzheimer's Disease
Volume	52
Issue number	4
DOIs	https://doi.org/10.3233/JAD-160074
Publication status	Published - 2016

Keywords

Alpha7 nicotinic acetylcholine receptor
Alzheimer's disease
biomarkers
cholinesterase inhibitors
pharmacogenetics

ASJC Scopus subject areas

Psychiatry and Mental health
Geriatrics and Gerontology
Clinical Psychology

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10.3233/JAD-160074

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Clarelli, F., Mascia, E., Santangelo, R., Mazzeo, S., Giacalone, G., Galimberti, D., Fusco, F., Zuffi, M. A. M., Fenoglio, C., Franceschi, M., Scarpini, E. A., Forloni, G., Magnani, G., Comi, G., Albani, D., & Martinelli Boneschi, F. (2016). CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients. Journal of Alzheimer's Disease, 52(4), 1203-1208. https://doi.org/10.3233/JAD-160074

Clarelli, F, Mascia, E, Santangelo, R, Mazzeo, S, Giacalone, G, Galimberti, D, Fusco, F, Zuffi, MAM, Fenoglio, C, Franceschi, M, Scarpini, EA, Forloni, G, Magnani, G, Comi, G, Albani, D & Martinelli Boneschi, F 2016, 'CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients', Journal of Alzheimer's Disease, vol. 52, no. 4, pp. 1203-1208. https://doi.org/10.3233/JAD-160074

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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).",

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author = "Ferdinando Clarelli and E. Mascia and R. Santangelo and Salvatore Mazzeo and Giacomo Giacalone and Daniela Galimberti and Federica Fusco and Zuffi, {Marta Ada Maria} and Chiara Fenoglio and Massimo Franceschi and Scarpini, {Elio Angelo} and Gianluigi Forloni and Giuseppe Magnani and Giancarlo Comi and Diego Albani and {Martinelli Boneschi}, Filippo",

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AU - Mazzeo, Salvatore

AU - Giacalone, Giacomo

AU - Galimberti, Daniela

AU - Fusco, Federica

AU - Zuffi, Marta Ada Maria

AU - Fenoglio, Chiara

AU - Franceschi, Massimo

AU - Scarpini, Elio Angelo

AU - Forloni, Gianluigi

AU - Magnani, Giuseppe

AU - Comi, Giancarlo

AU - Albani, Diego

AU - Martinelli Boneschi, Filippo

PY - 2016

Y1 - 2016

N2 - 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).

AB - 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).

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

Abstract

Keywords

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