Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.

ABSTRACT: There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability. We therefore investigated association between structural variation in a set of 25 ALS genes, and ALS risk and phenotype. As expected, the repeat expansion in the C9orf72 gene was identified as associated with ALS. Two other ALS-associated structural variants were identified: inversion in the VCP gene and insertion in the ERBB4 gene. All three variants were associated both with increased risk of ALS and specific phenot

SUBMITTER: Al Khleifat A 

PROVIDER: S-EPMC8799638 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature