UK Biobank analysis finds more pathogenic SOD1 carriers than expected from clinical reports
Original source
High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Related topics
An analysis of exome data from about 470,000 UK Biobank participants identified 122 people carrying monoallelic pathogenic SOD1 coding variants. Most were asymptomatic, and the researchers estimated that SOD1-ALS may occur in about 1.04 people per 100,000 in the UK, four times the clinically reported figure. Age, variant type and neurofilament levels were associated with differences in disease penetrance and survival.
Why this matters
The findings may help researchers understand why some people with SOD1 variants develop ALS and others do not. They support the value of identifying SOD1 variants in people with ALS and studying presymptomatic carriers, but this population analysis does not show that screening or treatment improves outcomes for individuals.
Limitations and context
This was a primary research analysis of UK Biobank exome data, not a treatment trial. Participants were over 40, and the estimated prevalence depends on genetic and clinical data that may miss disease or reflect the cohort’s characteristics. Most identified carriers were asymptomatic, so the findings do not establish who will develop ALS or how any treatment will work. The study was published as a journal article, but its estimates still require confirmation in other populations and longer follow-up.