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Title: A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.
Author: Tell Martí, Gemma
Puig Butillé, Joan Anton
Potrony Mateu, Míriam
Plana, Estel
Badenas Orquin, Celia
Antonell, Anna
Sánchez del Valle Díaz, Raquel
Molinuevo, José Luis
Lleó Bisa, Alberto
Alcolea, Daniel
Fortea Ormaechea, Juan
Fernandez-Santiago, Rubén
Clarimón, Jordi
Lladó Plarrumaní, Albert
Puig i Sardà, Susana
Keywords: Malaltia d'Alzheimer
Genètica humana
Marcadors bioquímics
Alzheimer's disease
Human genetics
Biochemical markers
Issue Date: 3-Feb-2017
Publisher: IOS Press
Abstract: Despite the recent identification of some novel risk genes for Alzheimer's disease (AD), the genetic etiology of late-onset Alzheimer's disease (LOAD) remains largely unknown. The inclusion of these novel risk genes to the risk attributable to the APOE gene accounts for roughly half of the total genetic variance in LOAD. The evidence indicates that undiscovered genetic factors may contribute to AD susceptibility. In the present study, we sequenced the MC1R gene in 525 Spanish LOAD patients and in 160 controls. We observed that a common MC1R variant p.V92M (rs2228479), not related to pigmentation traits, was present in 72 (14%) patients and 15 (9%) controls and confers increased risk of developing LOAD (OR: 1.99, 95% CI: 1.08-3.64, p = 0.026), especially in those patients whose genetic risk could not be explained by APOE genotype. This association remains and even increased in the subset of 69 patients with typical AD cerebrospinal fluid profile (OR: 3.40 95% CI: 1.40-8.27, p = 0.007). We did not find an association between p.V92M and age of onset of AD. Further studies are necessary to elucidate the role of MC1R in brain cells through the different MC1R pathways.
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It is part of: Journal of Alzheimer's Disease, 2017, vol. 56, num. 3, p. 1065-1074
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ISSN: 1387-2877
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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