A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

Gemma Tell-Marti, Joan Anton Puig-Butille, Miriam Potrony, Estel Plana, Celia Badenas, Anna Antonell, Raquel Sanchez-Valle, José L. Molinuevo, Alberto Lleó, Daniel Alcolea, Juan Fortea, Rubén Fernández-Santiago, Jordi Clarimón, Albert Lladó, Susana Puig

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2 Citations (Scopus)


© 2017 - IOS Press and the authors. All rights reserved. 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.
Original languageEnglish
Pages (from-to)1065-1074
JournalJournal of Alzheimer's Disease
Issue number3
Publication statusPublished - 1 Jan 2017


  • Cerebrospinal fluid biomarkers
  • common variant
  • late-onset Alzheimer's disease
  • melanocortin 1 receptor (MC1R) gene
  • p.V92M
  • risk


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