title: Presenilin-1 polymorphism and amyloid beta-protein deposition in fatal head injury.
abstract: Approximately 30% of patients with fatal head injuries have deposits of amyloid beta-protein (A beta); these are predominantly individuals carrying the epsilon 4 allele of apolipoprotein E (apoE). A beta deposition occurs in Alzheimer's disease (AD), for which approximately 50% of the genetic risk is attributed to apoE epsilon 4. The 1,1 genotype of a presenilin-1 (PS-1) polymorphism has been suggested to account for about half of the remaining genetic risk for AD. We related the PS-1 genotypes of 90 head-injured individuals to A beta deposition and apoE genotype. There was no difference in PS-1 genotype or allele frequencies between individuals with and without A beta deposits. Eighteen of 23 individuals with A beta deposits had apoE epsilon 4 as a risk factor. Three of five individuals without apoE epsilon 4 had the PS-1 1,1 genotype. If PS-1 genotype influences A beta deposition the effect is small and is overwhelmed by that of apoE genotype.
authors.affiliation: Dipartimento di Scienze Morfologiche e Medico Legale, Università degli Studi di Modena, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zunarelli
authors.forename: J A
authors.initials: JA
authors.lastname: Nicoll
authors.forename: D I
authors.initials: DI
authors.lastname: Graham
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D001057:Apolipoproteins E / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D006259:Craniocerebral Trauma / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000502:physiology*; D053764:Presenilin-1
chemical_list: D016229:Amyloid beta-Peptides; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1