The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies.
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.
Xu
W
W
The Wolfson Institute for Biomedical Research, London, UK.
Liu
L
L
Emson
P
P
Harrington
C R
CR
McKeith
I G
IG
Perry
R H
RH
Morris
C M
CM
Charles
I G
IG
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
C496319:NOS2 protein, human; D019001:Nitric Oxide Synthase; D052247:Nitric Oxide Synthase Type II