Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

ABSTRACT: Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which is confirmed in this study (Pearson's correlation coefficient R² = 0.62). Using a total of 786 MJD patients from five different geographical origins, a genome-wide association study (GWAS) was conducted to identify additional AO modifying factors that could explain some of the residual AO variability. We identified nine suggestively associated loci (P < 1 × 10^-5). These loci were enriched for genes involved in vesicle transport, olfactory signaling, and synapt

SUBMITTER: Akcimen F 

PROVIDER: S-EPMC7138549 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature