A common haplotype within the PON1 promoter region is associated with sporadic ALS

Landers, John E, Leigh, Nigel and et al, (2008) A common haplotype within the PON1 promoter region is associated with sporadic ALS. Amyotrophic Lateral Sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 9 (5). pp. 306-14. ISSN 1471-180X

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Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disorder of upper and lower motor neurons. Genetic variants in the paraoxonase gene cluster have been associated with susceptibility to sporadic ALS. Because these studies have yielded conflicting results, we have further investigated this association in a larger data set. Twenty SNPs spanning the paraoxonase gene cluster were genotyped on a panel of 597 case and 692 control samples and tested for association with risk of sporadic ALS and with ALS sub-phenotypes. Our study revealed two SNPs, rs987539 and rs2074351, within the paraoxonase gene cluster that are associated with susceptibility to sporadic ALS (uncorrected p=6.47E-04 and 7.87E-04, respectively). None of the 20 SNPs displayed significant associations with age of onset, site of onset or disease survival. Using a sliding window approach, we have also identified a 5-SNP haplotype that is significantly associated with risk of sporadic ALS (p=2.75E-05). We conclude that a common haplotype within the PON1 promoter region is associated with susceptibility to sporadic ALS

Item Type: Article
Additional Information: Additional authors: Lijia Shi, Ting-Jan Cho, Jonathan D. Glass, Christopher E. Shaw, Frank Diekstr, Meraida Polak, Ildefonso Rodriguez-Leyva, Stephan Niemann, Bryan J. Traynor, Diane Mckenna-Yasek, Peter C. Sapp, Ammar Al-Chalabi, Anne-Marie A. Wills and Robert H. Brown, Jr
Keywords: Amyotrophic lateral sclerosis, paraoxonase, SNP, haplotypes, case-control studies
Schools and Departments: Brighton and Sussex Medical School > Clinical and Experimental Medicine
Brighton and Sussex Medical School > Neuroscience
Subjects: R Medicine > RC Internal medicine > RC0321 Neurosciences. Biological psychiatry. Neuropsychiatry > RC0346 Neurology. Diseases of the nervous system Including speech disorders
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Depositing User: Patricia Butler
Date Deposited: 14 Nov 2012 17:48
Last Modified: 25 Sep 2017 13:57
URI: http://sro.sussex.ac.uk/id/eprint/42519
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