Combined epigenetic/genetic study identified an ALS age of onset modifier

Age at onset of amyotrophic lateral sclerosis (ALS) is highly variable (eg, 27-74 years in carriers of the G C -expansion in C9orf72). It might be influenced by environmental and genetic factors via the modulation of DNA methylation (DNAm) at CpG-sites. Hence, we combined an epigenetic and genetic a...

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Bibliographic Details
Published in:Acta neuropathologica communications 2021-04, Vol.9 (1), p.75-9, Article 75
Main Authors: Zhang, Ming, Xi, Zhengrui, Saez-Atienzar, Sara, Chia, Ruth, Moreno, Danielle, Sato, Christine, Montazer Haghighi, Mahdi, Traynor, Bryan J, Zinman, Lorne, Rogaeva, Ekaterina
Format: Article
Language:English
Subjects:
Age
Age of Onset
Aged
ALS
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - diagnosis
Amyotrophic Lateral Sclerosis - genetics
Analysis
Antigens
Binding sites
C9orf72 Protein - genetics
Chromosomes
Cohort Studies
Consortia
CpG-SNPs
DNA methylation
Epigenesis, Genetic - genetics
Epigenetic inheritance
Epigenetics
Epigenomics - methods
Family medical history
Female
Gene expression
Genetic aspects
Genetic association
Genetic Association Studies - methods
Genomes
Genomics
Haplotypes
Heterozygote
Humans
Male
Methylation
Middle Aged
Modifier
Mutation
Polymorphism, Single Nucleotide - genetics
Regression analysis
Single nucleotide polymorphisms
Transcription factors
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Summary:Age at onset of amyotrophic lateral sclerosis (ALS) is highly variable (eg, 27-74 years in carriers of the G C -expansion in C9orf72). It might be influenced by environmental and genetic factors via the modulation of DNA methylation (DNAm) at CpG-sites. Hence, we combined an epigenetic and genetic approach to test the hypothesis that some common single nucleotide polymorphisms (SNPs) at CpG-sites (CpG-SNPs) could modify ALS age of onset. Our genome-wide DNAm analysis suggested three CpG-SNPs whose DNAm levels are significantly associated with age of onset in 249 ALS patients (q 
ISSN:2051-5960
2051-5960
DOI:10.1186/s40478-021-01183-w