Investigations of a CA repeat in the oestrogen receptor beta gene in patients with Alzheimer's disease

Citation
C. Forsell et al., Investigations of a CA repeat in the oestrogen receptor beta gene in patients with Alzheimer's disease, EUR J HUM G, 9(10), 2001, pp. 802-804
Citations number
23
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN journal
1018-4813 → ACNP
Volume
9
Issue
10
Year of publication
2001
Pages
802 - 804
Database
ISI
SICI code
1018-4813(200110)9:10<802:IOACRI>2.0.ZU;2-7
Abstract
Several studies have shown that oestrogen treatment after menopause decreas es the risk for Alzheimer's disease (AD). It is also known that oestrogen s timulates the outgrowth of nerve cells and that apolipoprotein E (Apo E) sy nthesis and amyloid precursor protein (APP) metabolism are regulated by oes trogen. Recently a new oestrogen receptor was identified, oestrogen recepto r beta (ER beta), located at chromosome 14q22-24. Several genes close to th is chromosomal region have been implicated in AD, but the results are confl icting. Our hypothesis was that variations in the ER beta gene could be the underlying cause to the positive findings in these genes and we have there fore investigated a CA repeat(1) in intron 5 of the ER beta gene. Three hun dred and thirty-six AD cases and 110 healthy age-matched controls were incl uded in this study. Fourteen different alleles were found with frequencies between 0.1 and 37%. There was no significant difference between AD cases a nd controls when all alleles were compared. However, allele 5 was seen in 1 3.6% of the controls but only in 8.0% of AD cases (P=0.014; odds ratio (OR) =0.55). No AD patient homozygous for this allele was seen but three control s were homozygous. In conclusion, our findings suggest the ER beta allele 5 to be a protective factor. However, this has to be confirmed in a larger p opulation.