Description of the SCD cohorts
| Phenotype . | CSSCD discovery (N = 1514) . | CSSCD replication (N = 387) . | Georgia Health Sciences University (N = 318) . | Duke (N = 449) . | Statistical power (0.5% and 1% variance explained) . |
|---|---|---|---|---|---|
| Males/females | 740/764 | 177/210 | 149/169 | 199/250 | — |
| Age, y | 14.2 ± 11.9 | 11.2 ± 12.5 | NA | 33.7 ± 12.1 | — |
| Follow-up, y | 6.6 ± 1.6 | 6.1 ± 2.2 | NA | NA | — |
| α-thalassemia (N) | 27.1% (410) | 25.3% (98) | NA | NA | — |
| Acute chest syndrome (events/patient-year or affected/nonaffected) | 0.12 ± 0.24 | 0.16 ± 0.48 | 52/262 (4 missing) | 337/112 | 13%, 50% |
| Painful crisis (events/patient-year or any/none) | 0.80 ± 1.45 | 0.65 ± 1.17 | NA | 259/171 | 13%, 50% |
| Phenotype . | CSSCD discovery (N = 1514) . | CSSCD replication (N = 387) . | Georgia Health Sciences University (N = 318) . | Duke (N = 449) . | Statistical power (0.5% and 1% variance explained) . |
|---|---|---|---|---|---|
| Males/females | 740/764 | 177/210 | 149/169 | 199/250 | — |
| Age, y | 14.2 ± 11.9 | 11.2 ± 12.5 | NA | 33.7 ± 12.1 | — |
| Follow-up, y | 6.6 ± 1.6 | 6.1 ± 2.2 | NA | NA | — |
| α-thalassemia (N) | 27.1% (410) | 25.3% (98) | NA | NA | — |
| Acute chest syndrome (events/patient-year or affected/nonaffected) | 0.12 ± 0.24 | 0.16 ± 0.48 | 52/262 (4 missing) | 337/112 | 13%, 50% |
| Painful crisis (events/patient-year or any/none) | 0.80 ± 1.45 | 0.65 ± 1.17 | NA | 259/171 | 13%, 50% |
Analyses in this study were restricted to sickle cell anemia (HbSS) or HbSβ0 patients, with or without α-thalassemia. Means ± standard deviations are provided. Statistical power for the CSSCD discovery cohort was calculated using the following assumptions: minor allele frequency = 25%, effect size = 0.5% or 1% of the phenotypic variance explained, and α = 1 × 10−4.
NA; not available.