title: Lack of association between IDE genetic variability and Down's syndrome.
abstract: Virtually all patients with Down's syndrome develop Alzheimer disease (AD) during their life; thus, it is extremely important to investigate potential determinants of AD in this population. Previous studies found an association of DS with -48C/T presenilin-1 and with the -850 tumor necrosis factor-alpha, two polymorphisms of genes involved in amyloid beta modulation In this study, we evaluated whether the insulin-degrading enzyme (IDE), a protease involved in the degradation of endogenous brain-derived Abeta peptides, is involved in DS-related AD. To this end, 287 DS patients were compared with 251 apparently healthy controls, in order to assess the association between DS and two single nucleotide polymorphisms located on the introns 14 and 24 of the IDE gene. The comparison of allele and genotype distribution between cases and controls showed no evidence for an association with regard to IDE polymorphism, for both the SNPs (i.e., IDE 185 and IDE 199). In conclusion, the findings of our study suggest that the two IDE polymorphisms considered in the analysis do not appear to play a major role in DS-related AD.
authors.affiliation: Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Arpino
authors.forename: Antonella
authors.initials: A
authors.lastname: Piciullo
authors.forename: Mariella
authors.initials: M
authors.lastname: Palmarino
authors.forename: Patrizia
authors.initials: P
authors.lastname: Saccucci
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.forename: Paola
authors.initials: P
authors.lastname: Lucarelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000544:Alzheimer Disease / Q000209:etiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D007339:Insulysin / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012384:Rome / Q000453:epidemiology
chemical_list: D007339:Insulysin