Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis - PubMed
7 hours ago
- #amyotrophic lateral sclerosis
- #rare variants
- #exome sequencing
- Large-scale exome analysis of 17,919 ALS patients and 200,703 controls identified new rare variant risk genes.
- YKT6 was confirmed as a risk gene, with HTR3C, GBGT1, KNTC1, ARPP21, DNAJC7, and CFAP410 also supported or validated.
- A new high-effect variant (p.P747L) in ARPP21 was found, and p.P563L was confirmed to lead to aggressive ALS.
- Rare variants account for over 20% of ALS cases, supporting an oligogenic risk model and exceeding common variant GWAS capture.