title: Microcephaly genes and risk of late-onset Alzheimer disease.
abstract: 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.
authors.affiliation: Portland Veterans Affairs Medical Center, Oregon Health and Science University, Portland, OR.
authors.forename: Deniz
authors.initials: D
authors.lastname: Erten-Lyons
authors.forename: Beth
authors.initials: B
authors.lastname: Wilmot
authors.forename: Pavana
authors.initials: P
authors.lastname: Anur
authors.forename: Shannon
authors.initials: S
authors.lastname: McWeeney
authors.forename: Shawn K
authors.initials: SK
authors.lastname: Westaway
authors.forename: Lisa
authors.initials: L
authors.lastname: Silbert
authors.forename: Patricia
authors.initials: P
authors.lastname: Kramer
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Kaye
mesh_terms: D017668:Age of Onset; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C467202:ASPM protein, human; C405929:CDK5RAP2 protein, human; C414735:CENPJ protein, human; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D047908:Intracellular Signaling Peptides and Proteins; C460645:MCPH1 protein, human; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins