Research Article

Genome-wide pathway analysis in amyotrophic lateral sclerosis

Published: June 11, 2015
Genet. Mol. Res. 14 (2) : 6429-6438 DOI: https://doi.org/10.4238/2015.June.11.19
Cite this Article:
(2015). Genome-wide pathway analysis in amyotrophic lateral sclerosis. Genet. Mol. Res. 14(2): gmr5597. https://doi.org/10.4238/2015.June.11.19
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Abstract

The aims of this study were to identify candidate single-nucleotide polymorphisms (SNPs) and mechanisms of amyotrophic lateral sclerosis (ALS) and to generate SNP-to-gene-to-pathway hypotheses. An ALS genome-wide association study (GWAS) dataset that included 483,051 SNPs in 276 patients with ALS and 271 controls of European descent was used in this study. Identify Candidate Causal SNPs and Pathway (ICSNPathway) analysis was applied to the GWAS dataset. ICSNPathway analysis identified 19 candidate SNPs, 8 genes, and 9 pathways, which provided 8 hypothetical biological mechanisms. The strongest hypothetical biological mechanism was that rs9352 alters the role of chromatin assembly factor 1 subunit A in the context of the pathways of chromatin and nucleosome assembly (nominal P HILS1 → chromatin assembly (nominal P SMARCA5 → chromatin and nucleosome assembly (nominal P

The aims of this study were to identify candidate single-nucleotide polymorphisms (SNPs) and mechanisms of amyotrophic lateral sclerosis (ALS) and to generate SNP-to-gene-to-pathway hypotheses. An ALS genome-wide association study (GWAS) dataset that included 483,051 SNPs in 276 patients with ALS and 271 controls of European descent was used in this study. Identify Candidate Causal SNPs and Pathway (ICSNPathway) analysis was applied to the GWAS dataset. ICSNPathway analysis identified 19 candidate SNPs, 8 genes, and 9 pathways, which provided 8 hypothetical biological mechanisms. The strongest hypothetical biological mechanism was that rs9352 alters the role of chromatin assembly factor 1 subunit A in the context of the pathways of chromatin and nucleosome assembly (nominal P HILS1 → chromatin assembly (nominal P SMARCA5 → chromatin and nucleosome assembly (nominal P

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