title: The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies.
abstract: We report the analysis of the allele distribution of a (CCTTT)n pentanucleotide repeat within the promoter region of the NOS2A gene in DNA samples from patients with autopsy confirmed Alzheimer's disease (AD) and dementia with Lewy bodies (DLB) type. A significant difference was observed in the allelic distribution between the control group and the DLB group (chi2 = 15.175, df = 5; p<0.01), with an increased occurrence of the eight and nine repeat alleles, and a marked under representation of the 11 repeat allele. Genotype frequencies in the DLB group also differed significantly from controls (p<0.012). These results suggest that variations in the NOS2A gene may predispose to the development of DLB.
authors.affiliation: The Wolfson Institute for Biomedical Research, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: P
authors.initials: P
authors.lastname: Emson
authors.forename: C R
authors.initials: CR
authors.lastname: Harrington
authors.forename: I G
authors.initials: IG
authors.lastname: McKeith
authors.forename: R H
authors.initials: RH
authors.lastname: Perry
authors.forename: C M
authors.initials: CM
authors.lastname: Morris
authors.forename: I G
authors.initials: IG
authors.lastname: Charles
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020961:Lewy Body Disease / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D018895:Microsatellite Repeats / Q000235:genetics*; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052247:Nitric Oxide Synthase Type II; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D012016:Reference Values
chemical_list: C496319:NOS2 protein, human; D019001:Nitric Oxide Synthase; D052247:Nitric Oxide Synthase Type II