Table 1. Analysis of the association between ERC1(c.G48C) and CHM.
| ERC1(c.G48C) | CHM patients | Controls | p | OR (95% CI) | ||
|---|---|---|---|---|---|---|
| n* | RAF/ALL | n* | RAF/ALL | |||
| WES | 51(51) | 5/102 | 47(47) | 2/94 | 0.26 | |
| MassARRAY | 198(199) | 15/396 | 399(400) | 12/798 | 0.013 | 2.58 (1.26 - +∞) |
| Sanger test | 248(250) | 20/496 | 651 (652) | 20/1302 | 0.002 | 2.69(1.51 - +∞) |
RAF=risk allele frequency; n=number.
* The number given in bracket represents for the total of samples for testing while that outside of the bracket indicates the total of the samples with interpretable results. Several cases failed in these detection systems.