Background/Aims: Genetic variants that affect estrogen activity may influence the risk of Alzheimer's disease (AD). We examined the relation of polymorphisms in the gene for the estrogen receptor-beta (ESR2) to the risk of AD in women with Down syndrome. Methods: Two hundred and forty-nine women with Down syndrome, 31-70 years of age and nondemented at baseline, were followed at 14- to 18-month intervals for 4 years. Women were genotyped for 13 single-nucleotide polymorphisms (SNPs) in the ESR2 gene, and their association with AD incidence was examined. Results: Among postmenopausal women, we found a 2-fold increase in the risk of AD for women carrying 1 or 2 copies of the minor allele at 3 SNPs in introns seven (rs17766755) and six (rs4365213 and rs12435857) and 1 SNP in intron eight (rs4986938) of ESR2. Conclusion: These findings support a role for estrogen and its major brain receptors in modulating susceptibility to AD in women. © 2011 S. Karger AG, Basel.
CITATION STYLE
Zhao, Q., Lee, J. H., Pang, D., Temkin, A., Park, N., Janicki, S. C., … Schupf, N. (2012). Estrogen receptor-beta variants are associated with increased risk of Alzheimer’s disease in women with Down syndrome. Dementia and Geriatric Cognitive Disorders, 32(4), 241–249. https://doi.org/10.1159/000334522
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