title: Polymorphisms in the presenilin 1 and presenilin 2 genes and risk for sporadic Alzheimer's disease.
abstract: We examined the possible involvement of polymorphisms of the presenilin 1 (PS1) and presenilin 2 (PS2) genes in the risk for sporadic Alzheimer's disease (AD), either through an independent effect or through interaction with the existing apolipoprotein E (ApoE) risk, in 211 AD cases and 188 age-matched control subjects. No significant differences were obtained in any of the comparisons relating the effect of the PS1 and PS2 polymorphisms; thus, these polymorphisms do not appear to be sufficient risk factors by themselves for sporadic AD. Although the ApoE varepsilon4 genotype is the only definite predictor of risk, homozygosity for either the 1 allele of the PS1 or the C allele of the PS2 genes may increase the risk conferred by the presence of an ApoE epsilon4 allele. Additionally, combination of PS1/11 and PS2/CC genotypes might have a small synergistic effect on the risk for AD.
authors.affiliation: Neurology Service, 'Marqués de Valdecilla' University Hospital, 39008, Santander, Spain. neuro@humv.es
authors.forename: O
authors.initials: O
authors.lastname: Combarros
authors.forename: A
authors.initials: A
authors.lastname: Alvarez-Arcaya
authors.forename: A
authors.initials: A
authors.lastname: Oterino
authors.forename: J
authors.initials: J
authors.lastname: Berciano
authors.forename: M
authors.initials: M
authors.lastname: Delgado-Rodríguez
authors.forename: N
authors.initials: N
authors.lastname: Peña
authors.forename: C
authors.initials: C
authors.lastname: Fernández-Viadero
authors.forename: J
authors.initials: J
authors.lastname: Luis Pérez-López
authors.forename: S
authors.initials: S
authors.lastname: Setién
authors.forename: A
authors.initials: A
authors.lastname: Carvajal
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D053764:Presenilin-1; D053766:Presenilin-2; D012307:Risk Factors
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2