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Article

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.

Science advances - 1 Jan 2021

Saez-Atienzar Sara, Bandres-Ciga Sara, Langston Rebekah G, Kim Jonggeol J, Choi Shing Wan, Reynolds Regina H, Abramzon Yevgeniya, Dewan Ramita, Ahmed Sarah, Landers John E, Chia Ruth, Ryten Mina, Cookson Mark R, Nalls Michael A, Chiò Adriano, Traynor Bryan J

Abstract excerpt

Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. We analyzed genome-wide data involving 78,500 individuals using a polygenic risk score approach to identify the biological pathways and cell types involved in ALS. This data-driven approach identified multiple aspects of the biology...

Topics

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Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis Research
Cancer-related gene regulation
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genome-Wide Association Study

Neurogenetic and Muscular Disorders Research

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 33523907
DOI: 10.1126/sciadv.abd9036
PMCID: PMC7810371

Genes

ACSL5
ATG16L2
MAP1LC3A
MAPKAPK3
PLXNB2
SCFD1

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