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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies. Xu, W., Liu, L., Emson, P., Harrington, C.R., McKeith, I.G., Perry, R.H., Morris, C.M., Charles, I.G. Neuroreport (2000) [Pubmed]
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