Autoinflammatory & rare systemic diseases
VEXAS‐Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort
Authors' conclusion
Thus, the UBA1 p.Met41Leu somatic variant displayed incomplete penetrance for VEXAS.
Study context
- Population
- Diverse, unselected participants in the All of Us Research Program
- Participants
- 245,368 participants
- Exposure
- Carriers of a canonical VEXAS-associated somatic variant vs age, sex, and ancestry matched controls
- Carriersn = 74
- Outcome
- Prevalence of canonical VEXAS-associated somatic variants and their disease penetrance
Methodological detailsclinical-grade whole genome sequencing, age, sex, and ancestry matched controls
- Clinical-grade whole genome sequencing
- Age, sex, and ancestry matched controls
Main finding
As reported in the abstract
Carriers of a VEXAS-defining somatic variant (UBA1 p.Met41Leu)
| Group | Value | Variant allele fraction range | Women | African American | American Admixed/Latino |
|---|---|---|---|---|---|
| Carriers | 74 events | 4.5% to 33% | 62 (84%) | 20 (27%) | 14 (19%) |
Carriers
Value74 events
Variant allele fraction range4.5% to 33%
Women62 (84%)
African American20 (27%)
American Admixed/Latino14 (19%)
Observational data: associations, not effects.
Original publication
VEXAS‐Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort. Arthritis Rheumatol. Published 29 February 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →