APOE/TOMM40 genetic loci, white matter hyperintensities, and cerebral microbleeds

Int J Stroke. 2015 Dec;10(8):1297-300. doi: 10.1111/ijs.12615. Epub 2015 Aug 26.

Abstract

Background: Two markers of cerebral small vessel disease are white matter hyperintensities and cerebral microbleeds, which commonly occur in people with Alzheimer's disease.

Aim and/or hypothesis: To test for independent associations between two Alzheimer's disease-susceptibility gene loci--APOE ε and the TOMM40 '523' poly-T repeat--and white matter hyperintensities/cerebral microbleed burden in community-dwelling older adults.

Methods: Participants in the Lothian Birth Cohort 1936 underwent genotyping for APOE ε and TOMM40 523, and detailed structural brain magnetic resonance imaging at a mean age of 72·70 years (standard deviation = 0·7; range = 71-74).

Results: No significant effects of APOE ε or TOMM40 523 genotypes on white matter hyperintensities or cerebral microbleed burden were found amongst 624 participants.

Conclusions: Lack of association between two Alzheimer's disease susceptibility gene loci and markers of cerebral small vessel disease may reflect the relative health of this population compared with those in other studies in the literature.

Keywords: MRI; brain microbleeds; epidemiology; neurology; risk factors; vascular events.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics
  • Apolipoproteins E / genetics*
  • Brain / pathology*
  • Cerebrovascular Disorders / epidemiology
  • Cerebrovascular Disorders / genetics*
  • Cerebrovascular Disorders / pathology*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Scotland / epidemiology
  • White Matter / pathology*

Substances

  • Apolipoproteins E
  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TOMM40 protein, human