Open AccessEstrogen Receptor-α Variants Increase Risk of Alzheimer’s Disease in Women with Down Syndrome
Author(s) -
Nicole Schupf,
Joseph H. Lee,
Michelle Wei,
Deborah Pang,
Constance Chace,
Rong Cheng,
Warren B. Zigman,
Benjamin Tycko,
Wayne Silverman
Publication year - 2008
Publication title -
dementia and geriatric cognitive disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.026
H-Index - 110
eISSN - 1421-9824
pISSN - 1420-8008
DOI - 10.1159/000126495
Subject(s) - estrogen receptor alpha , dementia , estrogen , allele , estrogen receptor , alzheimer's disease , medicine , genotype , endocrinology , single nucleotide polymorphism , apolipoprotein e , biology , cognitive decline , disease , genetics , gene , breast cancer , cancer
Genetic variants that affect estrogen activity may influence the risk of Alzheimer's disease (AD). Two tightly linked polymorphisms (PvuII and XbaI) in the first intron of estrogen receptor 1 (ESR1), the gene for ER-alpha, have been reported to influence estrogen receptor expression and may influence the risk of AD.