Association results of 6p25.1 deletion with increased fracture risk
| Stage | Study | Country | Deletions/total cases | Frequency in cases (%) | Deletions/total controls | Frequency in controls (%) |
|---|---|---|---|---|---|---|
| Discovery | RS-I | Netherlands | 6/809 | 0.74 | 1/4369 | 0.02 |
| Frequency (95% CI) | 0.74% (0.15 to 1.33) | 0.02% (0 to 0.20) | ||||
| OR (95% CI) | 32.58 (3.95 to 1488.89) p=8.69×10−5 | |||||
| In silico | dCG | Iceland | 0/178 | 0 | 0/38 072 | 0 |
| Replication | FOS | USA | 4/367 | 1.09 | 12/3146 | 0.38 |
| PROSPER_IR | Ireland | 0/141 | 0 | 1/1650 | 0.06 | |
| PROSPER_NL | Netherlands | 0/57 | 0 | 0/756 | 0 | |
| PROSPER_SC | Scotland | 0/192 | 0 | 2/1912 | 0.10 | |
| RS-II | Netherlands | 2/161 | 1.24 | 3/1804 | 0.17 | |
| Total | 6/1096 | 0.55 | 18/47 340 | 0.04 | ||
| Frequency (95% CI) | 0.18% (0.11 to 0.98) | 0.04% (0.02 to 0.05) | ||||
| OR (95% CI) | 3.11 (1.01 to 8.22) p=0.02 | |||||
| Breakpoint | APOSS | Scotland | 0/531 | 0 | 0/2129 | 0 |
| Genotyping | CABRIO-C | Spain | 1/327 | 0.31 | 3/1018 | 0.29 |
| Replication | CABRIO-CC | Spain | 4/1023 | 0.39 | 3/1104 | 0.27 |
| CAIFOS | Australia | 0/736 | 0 | 0/581 | 0 | |
| CAMOS | Canada | 0/235 | 0 | 0/1732 | 0 | |
| DOPS | Denmark | 0/410 | 0 | 0/1242 | 0 | |
| EDOS | Scotland | 0/1500 | 0 | 0/193 | 0 | |
| EPICNOR | England | 0/227 | 0 | 1/1127 | 0.09 | |
| EPOLOS | Poland | 0/231 | 0 | 0/446 | 0 | |
| EPOS | England | 1/686 | 0.15 | 2/1289 | 0.16 | |
| HCS | England | 0/339 | 0 | 3/2308 | 0.13 | |
| LASA | Netherlands | 0/313 | 0 | 3/562 | 0.53 | |
| MANMC | Canada | 0/750 | 0 | 0/0 | 0 | |
| NOSOS | Scotland | 0/342 | 0 | 0/740 | 0 | |
| UFO | Sweden | 0/2110 | 0 | 0/2071 | 0 | |
| Total | 6/9760 | 0.06 | 15/16 542 | 0.09 | ||
| Frequency (95% CI) | 0.06% (0.01 to 0.11) | 0.09% (0.04 to 0.14) | ||||
| OR (95% CI) | 0.78 (0.24 to 2.24) p=0.81 | |||||
p, p value computed with an exact Cochran-Mantel-Haenszel test statistic.
dCG, Icelandic deCODE Genetics Study; FOS, Framingham Osteoporosis Study; RS, Rotterdam Study