Sex-specific risk loci and modified MEF2C expression in ALS

Ross P. Byrne; Wouter van Rheenen; Tomás  Gomes; Ahmad Al Khleifat; Alfredo Iacoangeli; Ammar Al-Chalabi; Jan Veldink; Russell Maclaughlin

doi:10.1101/2024.05.25.24307829

Sex-specific risk loci and modified MEF2C expression in ALS

Ross P. Byrne, Wouter van Rheenen, Tomás Gomes, Ahmad Al Khleifat, Alfredo Iacoangeli, Ammar Al-Chalabi, Jan Veldink, Russell Maclaughlin

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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.

Original language	English
DOIs	https://doi.org/10.1101/2024.05.25.24307829
Publication status	Published - 27 May 2024

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Sex-specific risk loci and modified MEF2C expression in ALSl

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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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AU - Byrne, Ross P.

AU - van Rheenen, Wouter

AU - Gomes, Tomás

AU - Al Khleifat, Ahmad

AU - Iacoangeli, Alfredo

AU - Al-Chalabi, Ammar

AU - Veldink, Jan

AU - Maclaughlin, Russell

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N2 - 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.

AB - 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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DO - 10.1101/2024.05.25.24307829

M3 - Preprint

BT - Sex-specific risk loci and modified MEF2C expression in ALS

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Sex-specific risk loci and modified MEF2C expression in ALS

Abstract

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