title: Association of the aromatase gene with Alzheimer's disease in women.
abstract: Associations have been reported of aromatase polymorphisms with Alzheimer's disease (AD). We studied nine polymorphisms in 207 cases of AD, 23 cases of mild cognitive impairment (MCI) and 233 controls, all from the OPTIMA cohort. We replicated two reported associations and found others. Our findings were consistent between AD and MCI. Further, our results were sex-specific, i.e. there were significant interactions between certain polymorphisms and gender, and the associations with AD were almost entirely in women. Aromatase catalyses the conversion of androgens to estrogens. It is expressed in the human brain. In the hippocampus, it is upregulated in postmenopausal women and is lowered in AD. These sex-specific results are therefore plausible. However, our results now need to be replicated in a larger dataset.
authors.affiliation: Genomics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
authors.forename: Helen T
authors.initials: HT
authors.lastname: Butler
authors.forename: Donald R
authors.initials: DR
authors.lastname: Warden
authors.forename: Eva
authors.initials: E
authors.lastname: Hogervorst
authors.forename: Jiannis
authors.initials: J
authors.lastname: Ragoussis
authors.forename: A David
authors.initials: AD
authors.lastname: Smith
authors.forename: Donald J
authors.initials: DJ
authors.lastname: Lehmann
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001141:Aromatase / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D015810:Linkage Disequilibrium; D008137:Longitudinal Studies; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: D001141:Aromatase