Microcephaly genes and risk of late-onset Alzheimer disease

Deniz Erten-Lyons, Beth Wilmot, Pavana Anur, Shannon Mcweeney, Shawn K. Westaway, Lisa Silbert, Patricia Kramer, Jeffrey Kaye

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Brain development in the early stages of life has been suggested to be one of the factors that may influence an individual's risk of Alzheimer disease (AD) later in life. Four microcephaly genes, which regulate brain development in utero and have been suggested to play a role in the evolution of the human brain, were selected as candidate genes that may modulate the risk of AD. We examined the association between single nucleotide polymorphisms tagging common sequence variations in these genes and risk of AD in two case-control samples. We found that the G allele of rs2442607 in microcephalin 1 was associated with an increased risk of AD (under an additive genetic model, P=0.01; odds ratio=3.41; confidence interval, 1.77-6.57). However, this association was not replicated using another case-control sample research participants from the Alzheimer Disease Neuroimaging Initiative. We conclude that the common variations we measured in the 4 microcephaly genes do not affect the risk of AD or that their effect size is small.

Original languageEnglish (US)
Pages (from-to)276-282
Number of pages7
JournalAlzheimer Disease and Associated Disorders
Issue number3
StatePublished - Jul 2011


  • Alzheimer disease
  • cognitive reserve
  • microcephaly genes

ASJC Scopus subject areas

  • Clinical Psychology
  • Gerontology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


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