Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome
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 wit...
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Published in | Dementia and geriatric cognitive disorders Vol. 32; no. 4; pp. 241 - 249 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Basel, Switzerland
Karger
01.01.2011
S. Karger AG |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 |
ISSN: | 1420-8008 1421-9824 |
DOI: | 10.1159/000334522 |