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.
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.
Authors: C Forsell; E Enmark; K Axelman; M Blomberg; L O Wahlund; J A Gustafsson; L Lannfelt Journal: Eur J Hum Genet Date: 2001-10 Impact factor: 4.246
Authors: J C Lambert; J M Harris; D Mann; H Lemmon; J Coates; A Cumming; D St-Clair; C Lendon Journal: Neurosci Lett Date: 2001-06-29 Impact factor: 3.046
Authors: Emilie F Rissman; Amy L Heck; Julie E Leonard; Margaret A Shupnik; Jan-Ake Gustafsson Journal: Proc Natl Acad Sci U S A Date: 2002-03-12 Impact factor: 11.205
Authors: K M Mattila; K Axelman; J O Rinne; M Blomberg; T Lehtimäki; P Laippala; M Röyttä; M Viitanen; L Wahlund; B Winblad; L Lannfelt Journal: Neurosci Lett Date: 2000-03-17 Impact factor: 3.046
Authors: M L Brandi; L Becherini; L Gennari; M Racchi; A Bianchetti; B Nacmias; S Sorbi; P Mecocci; U Senin; S Govoni Journal: Biochem Biophys Res Commun Date: 1999-11-19 Impact factor: 3.575
Authors: Andrea Romano; Marta Moraschi; Riccardo Cornia; Alessandro Bozzao; Olga Gagliardo; Laura Chiacchiararelli; Cristina Iani; Giacomo Stella; Giorgio Albertini; Alberto Pierallini Journal: Neuroradiology Date: 2015-01-06 Impact factor: 2.804
Authors: Karin Fehsel; Tamara Schikowski; Michaela Jänner; Anke Hüls; Mohammed Voussoughi; Thomas Schulte; Andrea Vierkötter; Tom Teichert; Christian Herder; Dorothea Sugiri; Ursula Krämer; Christian Luckhaus Journal: J Neural Transm (Vienna) Date: 2016-09-14 Impact factor: 3.575
Authors: Nicole Schupf; Joseph H Lee; Deborah Pang; Warren B Zigman; Benjamin Tycko; Sharon Krinsky-McHale; Wayne Silverman Journal: Free Radic Biol Med Date: 2017-08-31 Impact factor: 8.101