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

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.

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Authors and Affiliations

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

Authors

  1. Fabienne Wavrant-DeVrièze
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  2. Jean-Charles Lambert
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  3. L. Stas
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  4. Richard Crook
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  5. Dominique Cottel
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  6. Florence Pasquier
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  7. Bernard Frigard
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  8. Martine Lambrechts
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  9. E. Thiry
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  10. Philippe Amouyel
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  11. J. Pérez-Tur
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  12. M. C. Chartier-Harlin
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  13. John Hardy
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  14. Fred Van Leuven
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Received: 28 December 1998 / Accepted: 1 March 1999

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Wavrant-DeVrièze, F., Lambert, JC., Stas, L. et al. Association between coding variability in the LRP gene and the risk of late-onset Alzheimer’s disease.Hum Genet 104, 432–434 (1999). https://doi.org/10.1007/s004390050980

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