SHORT REPORT

Association study of three polymorphisms of TGF-ß1 gene with Alzheimer's disease

L Araria-Goumidi¹, J C Lambert¹, D M A Mann², C Lendon³, B Frigard⁴, T Iwatsubo⁵, D Cottel¹, P Amouyel¹ and M C Chartier-Harlin¹

¹ INSERM 508, Institut Pasteur de Lille, rue du Professeur Calmette, Lille, France
² Clinical Neuroscience Research Group, Department of Medicine, Greater Manchester Neurosciences Centre, Hope Hospital, Salford, UK
³ Molecular Psychiatry Department, Division of Neuroscience, Queen Elisabeth Psychiatry Hospital, University of Birmingham, Birmingham, UK
⁴ CH I de Wasquehal-Moulinel, rue Salvador Allende, Wasquehal, France
⁵ Department of Neuropathology and Neuroscience, University of Tokyo, Bunkyo-ku, Tokyo, Japan

Correspondence to:
Correspondence to:
Dr M C Chartier-Harlin, Unité INSERM 508, Institut Pasteur de Lille, 1 rue du Pr Calmette, BP 245, 59019 Lille Cedex, France;
marie-christine.chartier{at}pasteur-lille.fr

Background: There is evidence that inflammatory processes may contribute to the development of Alzheimer's disease through production of cytokines and free radicals that damage neurones. A recent study has shown that transforming growth factor ß1 (TGF-ß1) signalling in astrocytes promotes Aß production and could play a critical role in the formation of amyloid plaques in the brain.

Objectives: To explore the impact of the -800 and -509 TGF-ß1 promoter polymorphisms and the +25 polymorphism on the risk of occurrence of Alzheimer's disease in a large population of sporadic cases and controls, and on the amyloid ß (Aß) load in the brains of Alzheimer patients.

Methods: The TGF-ß1 genotypes of the three polymorphisms were determined in 678 sporadic Alzheimer's disease patients and 667 controls. They were also characterised, along with Aß load, in the brains of 81 necropsy confirmed Alzheimer patients.

Results: No significant variations in the distribution of the genotypes and haplotypes were observed between Alzheimer patients and controls, or in the amount of Aß deposition.

Conclusions: These results do not suggest an influence of genetic variability at the TGF-ß1 gene locus on the occurrence of Alzheimer's disease.

Keywords: Alzheimer's disease; TGF-ß1; amyloid ß protein; polymorphism

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