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Alpha2-macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease

B Nacmias1, A Tedde, E Cellini

  • 1Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134 Florence, Italy.

Neuroscience Letters
|February 13, 2001
PubMed

Insights

This study investigated the alpha(2)-macroglobulin (A2M) gene

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Recent studies suggested associations between alpha(2)-macroglobulin (A2M) gene polymorphisms and late-onset Alzheimer's disease (AD).
  • The influence of A2M gene on AD susceptibility might be population-specific.

Purpose of the Study:

  • To investigate the association of A2M gene polymorphisms with sporadic and familial Alzheimer's disease in an Italian population.
  • To analyze the segregation of A2M and apolipoprotein E polymorphisms in Italian AD patients and controls.

Main Methods:

  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used.
  • Genotyping of A2M and apolipoprotein E polymorphisms was performed in 346 subjects (including 98 controls).

Main Results:

  • The study did not confirm the previously reported associations between A2M gene polymorphisms and Alzheimer's disease.
  • A significant decrease in the deletion allele frequency of A2M was observed in AD patients compared to controls.
  • No significant association was found for the Val1000 polymorphism.

Conclusions:

  • The findings do not support a role for the alpha(2)-macroglobulin (A2M) gene as a genetic risk factor for Alzheimer's disease in the Italian population.
  • The observed decrease in the deletion allele suggests a potentially protective effect or a complex interaction not previously identified.

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