Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism
Authors' conclusion
Adults with supernumerary sex chromosome aneuploidies compared with 2 sex chromosomes had a small but statistically significant increased risk of VTE. Further research is needed to understand the clinical implications of this association.
Study context
- Population
- White participants aged 18 to 90 years of the US Geisinger MyCode Community Health Initiative and the UK Biobank108,461 MyCode + 418,725 UK Biobank analysed for Venous Thromboembolism (VTE) · UK Biobank 488,025
- Participants
- 642,544 participants
- Exposure
- Supernumerary sex chromosome aneuploidy vs 46,XX or 46,XY
- Outcome
- VTE: 1 primary inpatient VTE diagnosis, 2 primary outpatient VTE diagnoses, or a self-reported VTE diagnosis
- Follow-up
- 10 years
Methodological details2 population-scale biobanks, P values adjusted for multiple comparisons
- 2 population-scale biobanks
- P values adjusted for multiple comparisons
Main finding
As reported in the abstract
Incident VTE, MyCode
Supernumerary SCA
1.3% per person-year
17 events
46,XX or 46,XY
0.25% per person-year
2060 events
Each group vs 46,XX or 46,XYHazard ratio (95% CI)P value
Supernumerary SCA
5.4(3.4–8.7)
P < 0.001Each group vs 46,XX or 46,XY10-year risk difference (95% CI)P value
Supernumerary SCA
8.8%(4.2%–14.0%)
P < 0.001Observational data: associations, not effects.
Further findings
| Outcome | 46,XX or 46,XY | HR (95% CI) | P value | |
|---|---|---|---|---|
| Incident VTE, UK Biobank · 10 years of follow-upSupernumerary SCAvs 46,XX or 46,XY | 0.11% per person-year | 4.1 (2.5–6.7) | P < 0.001 | |
| 0.10.31310Hazard ratio (log scale) |
| Outcome | 10-year risk difference (95% CI) | P value | |
|---|---|---|---|
| Incident VTE, UK Biobank · 10 years of follow-upSupernumerary SCAvs 46,XX or 46,XY | 3.7% (1.4%–5.9%) | P < 0.001 | |
| −50510Difference (linear scale) |
- Incident VTE, UK Biobank: Supernumerary SCA 0.42% per person-year
- Incident VTE, UK Biobank: 16 events per 3803 person-years vs 4491 per 3 970 467 person-years
Original publication
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism. JAMA. Published 17 January 2023. doi:10.
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