Genetic association between alpha-2 macroglobulin and Japanese sporadic Alzheimer's disease

N Shibata1, T Ohnuma, T Takahashi

  • 1Department of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.

Neuroscience Letters
|September 7, 1999
PubMed

Insights

This study investigated the A2M-2 genetic variation in Alzheimer's disease (AD) patients. The alpha-2 macroglobulin (A2M) gene deletion showed no significant association with sporadic AD in the Japanese population.

Area of Science:

  • Neuroscience
  • Genetics

Background:

  • Alpha-2 macroglobulin (A2M) is a protease inhibitor potentially involved in Alzheimer's disease (AD) pathogenesis due to its role in amyloid-beta degradation.
  • A specific five-nucleotide deletion in the A2M gene (A2M-2) has been hypothesized to increase AD risk.

Purpose of the Study:

  • To investigate the association between the A2M-2 deletion and sporadic Alzheimer's disease in a Japanese cohort.
  • To determine the allelic frequencies of the A2M-2 deletion in healthy controls and AD patients.

Main Methods:

  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the A2M gene.
  • Genotyping was performed on 69 healthy controls and 55 sporadic AD cases.

Main Results:

  • The allelic frequencies of the A2M-2 deletion were 9.4% in controls and 6.4% in AD patients.
  • No statistically significant difference in A2M-2 frequencies was observed between the control and sporadic AD groups.

Conclusions:

  • The A2M-2 deletion is not significantly associated with sporadic Alzheimer's disease in the studied Japanese population.
  • This finding suggests that the A2M-2 mutation does not play a major role in the genetic risk for sporadic AD in this demographic.

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