GENETICS OF NERVOUS SYSTEM DISEASESThe CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodiesXu, Weiming1,5; Liu, Lizhi2; Emson, Piers2; Harrington, Charles R.3; McKeith, Ian G.4; Perry, Robert H.4; Morris, Christopher M.4; Charles, Ian G.2Author Information 1The Wolfson Institute for Biomedical Research, Cruciform Building, Gower Street, London WC1 E 6AU 2Department of Neurobiology, the Babraham Institute, Babraham, Cambridge CB2 4AT 3Cambridge Brain Bank Laboratory, MRC Centre, Hills Road, Cambridge CB2 2QH and Department of Mental Health, University of Aberdeen, Aberdeen AB25 2ZD 4MRC Neurochemical Pathology Unit, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE, UK 5Corresponding Author: Weiming Xu Received 21 September 1999; accepted 12 November 1999 Acknowledgements: W. Xu, L. Liu and I. G. Charles acknowledge Glaxo Wellcome for the support of this study. NeuroReport: February 7, 2000 - Volume 11 - Issue 2 - p 297-299 Buy 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 (χ2 = 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. © 2000 Lippincott Williams & Wilkins, Inc.