Human Genetics

, Volume 104, Issue 5, pp 432–434

Association between coding variability in the LRP gene and the risk of late-onset Alzheimer’s disease

  • Fabienne Wavrant-DeVrièze
  • Jean-Charles Lambert
  • L. Stas
  • Richard Crook
  • Dominique Cottel
  • Florence Pasquier
  • Bernard Frigard
  • Martine Lambrechts
  • E. Thiry
  • Philippe Amouyel
  • J. Pérez-Tur
  • M. C. Chartier-Harlin
  • John Hardy
  • Fred Van Leuven
Short Report

DOI: 10.1007/s004390050980

Cite this article as:
Wavrant-DeVrièze, F., Lambert, J., Stas, L. et al. Hum Genet (1999) 104: 432. doi:10.1007/s004390050980

Abstract

We have sequenced the entire (89 exons) open reading frame of the LRP gene in 12 cases of Alzheimer’s disease (AD) from Northern France. We have found no novel changes but confirm the occurrence of a polymorphism in exon 6 of the gene (A216V). This polymorphism is rare (2.8% of controls) and is in linkage equilibrium with previously reported polymorphisms. The V216 allele is negatively associated with the disease in a large case-controlled series. These data suggest that the LRP receptor may be involved in the pathobiology of AD, but the association that we report here cannot explain the previously reported genetic data implicating the LRP gene in AD. If the LRP gene is a major site of genetic variability leading to AD, there must be other biologically relevant variability in promoter or other regulatory elements of this large gene.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • Fabienne Wavrant-DeVrièze
    • 1
  • Jean-Charles Lambert
    • 2
  • L. Stas
    • 3
  • Richard Crook
    • 1
  • Dominique Cottel
    • 2
  • Florence Pasquier
    • 4
  • Bernard Frigard
    • 5
  • Martine Lambrechts
    • 3
  • E. Thiry
    • 3
  • Philippe Amouyel
    • 2
  • J. Pérez-Tur
    • 1
  • M. C. Chartier-Harlin
    • 2
  • John Hardy
    • 1
  • Fred Van Leuven
    • 3
  1. 1.Mayo Clinic Jacksonville, 4500 San Pablo Rd., Jacksonville, Fl 32224, USA e-mail: hardy@mayo.edu, Fax: +1904-953-7370US
  2. 2.CJF 95-05 INSERM 508, Institut Pasteur de Lille, 1 Rue du Pr Calmette BP 245, F-59019 Lille Cedex, FranceFR
  3. 3.Experimental Genetics Group, Center for Human Genetics, Flanders Institute for Biotechnology, K.U.Leuven – Campus Gasthuisberg ON 06, B-3000 Leuven, BelgiumBE
  4. 4.CHRU de Lille, Clinique Neurologique, Centre de la Mémoire, Hôpital Roger Salengro, F-59037 Lille Cédex, FranceFR
  5. 5.Centre de Gériatrie de Wasquehal Molinel, Rue Salvador Allende, BP165, F-59444 Wesquehal, FranceFR