Association between the PI*M3 allele of alpha 1-antitrypsin and Alzheimer's disease? A preliminary report

Hum Genet. 1996 Dec;98(6):744-6. doi: 10.1007/s004390050297.

Abstract

The deposition of beta A4-amyloid in senile plaques in the brain and small cerebral vessels is one of the pathological hallmarks of Alzheimer's disease (AD). Serine protease inhibitors (serpins) such as alpha 1-antitrypsin and alpha 1-antichymotrypsin have been found to be associated with beta-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased. We have analyzed alpha 1-antitrypsin phenotypes in a sample of 29 Polish patients with probable Alzheimer's disease. We have found an increased frequency of the PI*M3 allele (0.1897) in patients in comparison with the general population control (0.0563).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles*
  • Alzheimer Disease / genetics*
  • Humans
  • Middle Aged
  • Phenotype
  • Serpins / genetics
  • alpha 1-Antitrypsin / genetics*

Substances

  • Serpins
  • alpha 1-Antitrypsin