Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort.

ABSTRACT:

Objective

To test the hypothesis that rs573116164 will have disease-modifying effects in patients with superoxide dismutase 1 (SOD1) familial amyotrophic lateral sclerosis (fALS), we characterized rs573116164 within a cohort of 190 patients with fALS and 560 healthy age-matched controls to assess the variant for association with various measures of disease.

Methods

Using a previously described bioinformatics evaluation algorithm, a polymorphic short structural variant associated with SOD1 was identified according to its theoretical effect on gene expression. An 12-18 poly-T repeat (rs573116164) within the 3' untranslated region of serine and arginine rich proteins-related carboxy terminal domain associated factor 4 (SCAF4), a gene that is adjacent to

SUBMITTER: Pytte J 

PROVIDER: S-EPMC7357414 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature