Abstract
Significantly more men develop amyotrophic lateral sclerosis (ALS) than women, and heritability is not uniform between male and female transmissions, together suggesting a role for sex in the genetic aetiology of the disease. We therefore performed sex-stratified genome-wide and transcriptome-wide analyses of ALS risk, identifying six novel sex-specific risk loci includingMEF2C, which shows increased expression in female ALS motor neurones. X-chromosome analysis revealed an additional risk locus atIL1RAPL2.
Publisher
Cold Spring Harbor Laboratory