Table 2.
TP53 exonic variants associated with osteosarcoma risk or metastasis*
| Position | rsID | Variant | Case patients | Control patients | OR (95% CI) | P |
|---|---|---|---|---|---|---|
| No. (MAF, %) | No. (MAF, %) | |||||
| Association with metastasis at diagnosis | ||||||
| Chr17:g7578210 | rs1800372 | p.R213R; exonic splice site change | 99 (3.03) | 269 (0.74)† | 4.27 (1.18 to 15.48) | .0269 |
| Association with osteosarcoma risk | ||||||
| Chr17:g7579472 | rs1042522 | p.P72R | 498 (29.08) | 3510 (25.18)‡ | 1.22 (1.05 to 1.42) | .0098 |
* Logistic regression models were used to estimate the odds ratios and 95% confidence intervals per copy of the minor allele assuming a log-additive genetic model. CI = confidence interval; MAF = minor allele frequency; OR = odds ratio.
† Case patients of European ancestry with confirmed metastasis at diagnosis (n = 99) compared with case patients of European ancestry without metastasis at diagnosis (n = 269).
‡ Case patients of European ancestry (n = 498) compared with National Heart, Lung, and Blood Institute Exome Sequencing Project individuals of European ancestry (n = 3510).