Long-read sequencing links three CAA interruptions in ATXN2 repeats with ALS
Original source
Dissecting the relationship between haplotypes around ATXN2 CAG repeats and the number of CAA interruptions by long-read sequencing. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
- Peer review
- Preprint, not yet peer reviewed
Population inferred from the title and abstract by Compass.
A preprint study found that three CAA interruptions within intermediate-length ATXN2 CAG repeats were uncommon in controls but more frequent among people with ALS. A genetic variant, rs148019457-G, identified the haplotype carrying these three interruptions in the mainly European-ancestry ALS group studied.
Why this matters
This could help researchers identify ATXN2 repeat structures using existing genetic data and study their relationship with ALS risk. It does not currently change treatment or establish that the interruptions cause ALS.
Limitations and context
The work is a medRxiv preprint, not a peer-reviewed publication. The ALS analysis included 159 people, about 90% of European ancestry, and the additional sequencing involved 41 people, mostly of European ancestry. The findings show an association in selected groups and need validation in larger, more diverse populations and further research to determine their clinical significance.