Microcephaly Genes and Risk of Late-onset Alzheimer Disease

作者：Erten Lyons Deniz^*; Wilmot Beth; Anur Pavana; McWeeney Shannon; Westaway Shawn K; Silbert Lisa; Kramer Patricia; Kaye Jeffrey

来源：Alzheimer Disease and Associated Disorders, 2011, 25(3): 276-282.

DOI：10.1097/WAD.0b013e31820a1d32

• Alzheimer disease
• microcephaly genes
• cognitive reserve

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.

• 出版日期2011-9