title: No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies.
abstract: The discovery of mis-sense mutations linking the presenilin-1 (PS-1) gene on chromosome 14 to Alzheimer's disease (AD) has lead to a thorough investigation of this locus. The PS-1 gene contains a polymorphism creating two alleles. The most common allele, allele 1, has been linked with late-onset AD. Given the clinical and pathological overlaps between AD and dementia with Lewy bodies we genotyped 46 pathologically confirmed cases of dementia with Lewy bodies for the PS-1 polymorphism and compared the allelic frequencies with 87 age-matched control cases and 103 age-matched AD cases. No association between dementia with Lewy bodies and PS-1 allele 1 was found either in the group as a whole, or in the group stratified according to dosage of the epsilon4 allele of the apolipoprotein E gene. We suggest that either the presenilin polymorphism has no effect on dementia with Lewy bodies or that any linkage is precluded by another, more influential, locus.
authors.affiliation: Medical Research Council Neurochemical Pathology Unit, Institute for the Health of the Elderly, Newcastle General Hospital, Newcastle upon Tyne, UK.
authors.forename: A B
authors.initials: AB
authors.lastname: Singleton
authors.forename: H
authors.initials: H
authors.lastname: Lamb
authors.forename: A
authors.initials: A
authors.lastname: Leake
authors.forename: I G
authors.initials: IG
authors.lastname: McKeith
authors.forename: P G
authors.initials: PG
authors.lastname: Ince
authors.forename: R H
authors.initials: RH
authors.lastname: Perry
authors.forename: C M
authors.initials: CM
authors.lastname: Morris
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D016631:Lewy Bodies / Q000235:genetics / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic; D053764:Presenilin-1
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1