Abstract
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.
Original language | English (US) |
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Pages (from-to) | 241-249 |
Number of pages | 9 |
Journal | Dementia and Geriatric Cognitive Disorders |
Volume | 32 |
Issue number | 4 |
DOIs | |
State | Published - Feb 2012 |
Externally published | Yes |
Keywords
- Alzheimer's disease
- Down syndrome
- Estrogen
- Estrogen receptor-beta
ASJC Scopus subject areas
- Geriatrics and Gerontology
- Cognitive Neuroscience
- Psychiatry and Mental health