No interaction between the APOE and the alpha-1-antichymotrypsin genes on risk for Alzheimer's disease

Danielle Fallin, Sarah Reading, John Schinka, Jonathan Hoyne, Paul Scibelli, Michael Gold, Fiona Crawford, Michael Mullan

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


It is now known that possession of one of the three common forms of the apolipoprotein E gene (allele ε4) confers an increased risk for Alzheimer's disease (AD), both familial and sporadic, and that this risk is dose- dependent. Other genes that may play a role in AD, either through independent association with the disease or through modification of, or interaction with, the existing apolipoprotein E (APOE) risk, are now under investigation including the alpha-1-antichymotrypsin (ACT) gene, the very low density lipoprotein receptor (VLDL-R) gene, and the presenilin-1 (PS1) gene. Kamboh et al. [1995] reported that a polymorphism in the α-1- antichymotrypsin gene could modify the risk for AD conferred by the APOE locus, specifically by increasing the risk for AD among ε4 homozygotes. The ACT gene, which is found on chromosome 14, has previously been proposed as a candidate for AD due to the presence of the ACT protein in senile plaques and the reported elevation of the protein in the cerebro-spinal fluid (CSF) and serum of AD eases. We have investigated this reported association within our familial and sporadic AD dataset, where we find no independent association between ACT and the occurrence of AD. Logistic regression analysis excludes ACT or the interaction between ACT and APOE as significant contributors in the prediction of disease status. By this analysis, ACT genotyping does not provide additional information about an individual's risk of Alzheimer's disease beyond the risk information conferred by APOE genotype alone.

Original languageEnglish (US)
Pages (from-to)192-194
Number of pages3
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number2
StatePublished - 1997
Externally publishedYes


  • Alzheimer's disease
  • alpha-1-antichymotrypsin
  • apolipoprotein E

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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