Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.

ABSTRACT:

Introduction/aims

Amyotrophic lateral sclerosis (ALS) may be familial or sporadic, and twin studies have revealed that even sporadic forms have a significant genetic component. Variants in 55 nuclear genes have been associated with ALS and although mitochondrial dysfunction is observed in ALS, variants in mitochondrial genomes (mitogenomes) have not yet been tested for association with ALS. The aim of this study was to determine whether mitogenome variants are associated with ALS.

Methods

We conducted a genome-wide association study (GWAS) in mitogenomes of 1965 ALS patients and 2547 controls.

Results

We identified 51 mitogenome variants with p values <10^-7, of which 13 had odds ratios (ORs) >1, in genes RNR1, ND1, CO1, CO3, ND5, ND6, and CYB, while 38 vari

SUBMITTER: Briones MRS 

PROVIDER: S-EPMC11474277 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature