CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

ABSTRACT:

Objective

After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause for ALS. However, the exact pathogenicity and clinical significance of these mutations remain unclear. Here, we aimed to determine the role of CHCHD10 mutations in ALS.

Methods

We analyzed 4,365 whole genome sequenced ALS patients and 1,832 controls from 7 different countries and examined all nonsynonymous single nucleotide variants in CHCHD10. These were tested for association with ALS, independently and in aggregate using several genetic burden tests (including sequence kernel association test [SKAT], optimal unified test [SKAT-O], and Firth logistic regression).

Resu

SUBMITTER: Project MinE ALS Sequencing Consortium 

PROVIDER: S-EPMC6553489 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature