Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.

ABSTRACT:

Background and objectives

Amyotrophic lateral sclerosis (ALS) is a degenerative condition of the brain and spinal cord in which protein-coding variants in known ALS disease genes explain a minority of sporadic cases. There is a growing interest in the role of noncoding structural variants (SVs) as ALS risk variants or genetic modifiers of ALS phenotype. In small European samples, specific short SV alleles in noncoding regulatory regions of SCAF4, SQSTM1, and STMN2 have been reported to be associated with ALS, and several groups have investigated the possible role of SMN1/SMN2 gene copy numbers in ALS susceptibility and clinical severity.

Methods

Using short-read whole genome sequencing (WGS) data, we investigated putative ALS-susceptibility

SUBMITTER: Monnakgotla NR 

PROVIDER: S-EPMC10281237 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature