title: Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.
abstract: The E4 allele of the apolipoprotein E gene (APOE) is a major risk factor for late-onset Alzheimer's disease (LOAD) but is neither necessary nor sufficient to cause the disease. In this study, we investigated polymorphisms in the presenilin-1 (PS-1), and butyrylcholinesterase (BChE) genes, which have been implicated as risk factors for LOAD. Our data-set comprised 177 AD and 118 control patients, all of whom had been histopathologically confirmed following autopsy. We have tested homozygosity for the PS-1 allele 1 and possession of the BChE-K variant in association with APOE epsilon4 as risk factors in LOAD. Our findings support an association between the PS-1 polymorphism and LOAD, finding homozygosity for allele 1 associated with an approximately two-fold increased risk. Our data also show that in subjects greater than 75 years of age possession of both BChE-K and APOE-epsilon4 alleles is associated with an increased risk of LOAD, whilst the risk associated with APOE-epsilon4 allele alone is not significant.
authors.affiliation: Division of Clinical Chemistry, School of Clinical Laboratory Sciences, University Hospital, Queen's Medical Centre, Nottingham, UK.
authors.forename: L
authors.initials: L
authors.lastname: Tilley
authors.forename: K
authors.initials: K
authors.lastname: Morgan
authors.forename: J
authors.initials: J
authors.lastname: Grainger
authors.forename: P
authors.initials: P
authors.lastname: Marsters
authors.forename: L
authors.initials: L
authors.lastname: Morgan
authors.forename: J
authors.initials: J
authors.lastname: Lowe
authors.forename: J
authors.initials: J
authors.lastname: Xuereb
authors.forename: C
authors.initials: C
authors.lastname: Wischik
authors.forename: C
authors.initials: C
authors.lastname: Harrington
authors.forename: N
authors.initials: N
authors.lastname: Kalsheker
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D002091:Butyrylcholinesterase / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D002091:Butyrylcholinesterase