Alzheimer's disease: genetic polymorphisms and rate of decline

Dement Geriatr Cogn Disord. 2012;33(2-3):84-9. doi: 10.1159/000336790. Epub 2012 Mar 9.

Abstract

Background/aim: To investigate the influence of established genetic risk factors for Alzheimer's disease on the speed of disease progression.

Methods: Polymorphisms (in ACE, ApoE, BIN1, CLU, CR1, CST3, EXOC3L2, GWA14q32.13, IL8, LDLR, PICALM, TNK1) of 40 Alzheimer's disease patients from a longitudinal study were analyzed. A standardized loss of Mini-Mental State Examination points was used as the progression parameter.

Results: Polymorphisms in CST3 and EXOC3L2 as well as the absence of APOE4 were associated with more aggressive disease courses. A trend was observed for BIN1.

Conclusion: In addition to being a risk factor for disease development, some of the polymorphisms investigated here are associated with higher rates of decline and disease progression and thus might act as prognostic disease markers. This effect needs to be considered in future treatment strategies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Alzheimer Disease* / diagnosis
  • Alzheimer Disease* / genetics
  • Alzheimer Disease* / psychology
  • Apolipoprotein E4 / genetics
  • Cystatin C / genetics
  • Disease Progression*
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Intelligence Tests
  • Male
  • Monomeric Clathrin Assembly Proteins / genetics
  • Polymorphism, Single Nucleotide

Substances

  • Apolipoprotein E4
  • Cystatin C
  • Monomeric Clathrin Assembly Proteins