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Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Ruiz, A
  • Dols-Icardo, O
  • Bullido, MJ
  • Pastor, P
  • Rodriguez-Rodriguez, E
  • de Munain, AL
  • de Pancorbo, MM
  • Alvarez, V
  • Antonell, A
  • Lopez-Arrieta, J
  • Hernandez, I
  • Tarraga, L
  • Boada, M
  • Lleo, A
  • Blesa, R
  • Frank-Garcia, A
  • Sastre, I
  • Razquin, C
  • Ortega-Cubero, S
  • Lorenzo, E
  • Sanchez-Juan, P
  • Combarros, O
  • Gorostidi, A
  • Elcoroaristizabal, X
  • Coto, E
  • Sanchez-Valle, R
  • Clarimon, J
  • Dementia Genetic Spanish Consortiu

Grupos

Abstract

A non-synonymous genetic rare variant, rs75932628-T (p.R47H), in the TREM2 gene has recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3172 AD and 682 FTD patients and 2169 healthy controls from Spain. We found that 0.6% of AD patients carried this variant compared to 0.1% of controls (odds ratio [OR] = 4.12, 95% confidence interval [CI] = 1.21-14.00, p = 0.014). A meta-analysis comprising 32,598 subjects from 4 previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR = 4.11, 95% CI = 2.99-5.68, p = 5.27 x 10(-18)). We did not find an association between p.R47H and age of onset of AD or family history of dementia. Finally, none of the FTD patients harbored this genetic variant. These data strongly support the important role of p.R47H in AD risk, and suggest that this rare genetic variant is not related to FTD. (C) 2014 Elsevier Inc. All rights reserved.

Datos de la publicación

ISSN/ISSNe:
0197-4580, 1558-1497

NEUROBIOLOGY OF AGING  ELSEVIER SCIENCE INC

Tipo:
Article
Páginas:
-
PubMed:
24041969
Factor de Impacto:
2,765 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 96

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Keywords

  • Alzheimer's disease; Frontotemporal dementia; TREM2; Genetic association; p.R47H; Rare variant

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