Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region
The most common TTR variant in our study was Val142Ile, the most common variant in the United States (US). Similar to other US-based studies, affected individuals were predominantly of African, non-Hispanic ancestry. The availability of treatments for symptomatic ATTRv patients raises opportunities and challenges for biobanks as the identification of at-risk individuals places pressure on highly specialized centers and providers to see patients for screening and follow-up.
Authors
- Nicholas Rafaels (ORCID: https://orcid.org/0000-0002-2024-629X)
- Emily Todd (ORCID: https://orcid.org/0000-0003-1551-5691)
- Dianna Quan (ORCID: https://orcid.org/0000-0002-3699-5252)
- Ellie Jacoby (ORCID: https://orcid.org/0000-0003-4593-4360)
- Harry Smith (ORCID: https://orcid.org/0000-0003-1020-1837)
- Jonathan Shortt (ORCID: https://orcid.org/0000-0002-7980-5420)
- Kristy Crooks (ORCID: https://orcid.org/0000-0001-8263-096X)
Institutions
- University of Colorado Anschutz Medical Campus (US)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2024-12-10
- DOI
- https://doi.org/10.1002/mus.28301
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00