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Sex-specific risk loci and modified MEF2C expression in ALS

Byrne, R. P.; van Rheenen, W.; Gomes, T. D.; Kelly, C. M.; Kacar, E.; Project MinE ALS GWAS Consortium, ; International ALS/FTD Genomics Consortium, ; Al Khleifat, A.; Iacoangeli, A.; Al-Chalabi, A.; Veldink, J. H.; McLaughlin, R. L.

2024-05-27 genetic and genomic medicine
10.1101/2024.05.25.24307829 medRxiv
Show 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 including MEF2C, which shows increased expression in female ALS motor neurones. X-chromosome analysis revealed an additional risk locus at IL1RAPL2.

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