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A common haplotype within the PON1 promoter region is associated with sporadic ALS
- Source :
- Amyotrophic Lateral Sclerosis
- Publication Year :
- 2008
- Publisher :
- Informa UK Limited, 2008.
-
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.
- Subjects :
- haplotypes
Linkage disequilibrium
Genotype
SNP
Single-nucleotide polymorphism
Polymorphism, Single Nucleotide
Linkage Disequilibrium
Gene cluster
medicine
Humans
Genetic Predisposition to Disease
Amyotrophic lateral sclerosis
Promoter Regions, Genetic
Genetics
biology
Aryldialkylphosphatase
case-control studies
Amyotrophic Lateral Sclerosis
Haplotype
Paraoxonase
Sequence Analysis, DNA
General Medicine
medicine.disease
PON1
paraoxonase
Isoenzymes
Neurology
Multigene Family
biology.protein
Original Article
Neurology (clinical)
Age of onset
Subjects
Details
- ISSN :
- 1471180X and 17482968
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Amyotrophic Lateral Sclerosis
- Accession number :
- edsair.doi.dedup.....448f06310df79a5f810c73b6680f1f34