title: Interaction between CYP19 aromatase and butyrylcholinesterase genes increases Alzheimer's disease risk.
abstract: Biological evidence supports a role of aromatase and butyrilcholinesterase (BCHE) enzymes in the disruption of the cholinergic neurotransmission observed in Alzheimer's disease (AD). Estrogens may reduce the risk of AD through enhancing or preserving cholinergic neurotransmission, and aromatase, the product of the CYP19 gene, is a critical enzyme in the peripheral synthesis of estrogens. BCHE is a hydrolytic enzyme associated with acetylcholine synaptic degradation, and the BCHE K genetic variant confers some protective effect for AD by reducing the activity of the enzyme. We investigated whether a 5'-UTR CYP19 polymorphism and the BCHE K variant might be responsible for susceptibility to AD by studying a clinically well-defined group of 187 sporadic AD patients and 172 control subjects from a Spanish population. We have shown that the CYP19 C/C genotype is overrepresented in AD patients who carry the BCHE non-K allele when compared with controls (OR=1.85, p=0.03). Our findings suggest that the CYP19 and BCHE polymorphisms may interact in determining the risk of AD.
authors: Neurology Service, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain. combarro@unican.es
authors: Onofre
authors: O
authors: Combarros
authors: José A
authors: JA
authors: Riancho
authors: Jon
authors: J
authors: Infante
authors: Carolina
authors: C
authors: Sañudo
authors: Javier
authors: J
authors: Llorca
authors: María T
authors: MT
authors: Zarrabeitia
authors: José
authors: J
authors: Berciano
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001141:Aromatase / Q000235:genetics*; D002091:Butyrylcholinesterase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D013030:Spain / Q000453:epidemiology
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D001141:Aromatase; D002091:Butyrylcholinesterase