Table 4. Frequency of the subset of catalytically defective SIAE variants genotyped by Hunt et al. [7].
Cohort | R479C | F404S | Y349C | R314H | Q309P | G212R | C196F | W48X | All 8 |
UK Disease | 11/22718 | 0/22718 | 6/22718 | 7/22713 | 4/22716 | 1/22717 | 54/22718 | 2/22717 | 85/22718 |
UK Controls | 1/8274 | 1/8274 | 2/8274 | 2/8274 | 4/8274 | 0/8274 | 13/8274 | 0/8274 | 23/8274 |
Odds Ratio | 4.01 | – | 1.09 | 1.28 | 0.36 | – | 1.5153 | – | 1.3479 |
All Disease | 11/30618 | 0/30616 | 9/30618 | 9/30618 | 5/30618 | 1/30618 | 61/30618 | 2/30618 | 98/30618 |
All Controls | 1/12728 | 1/12737 | 2/12727 | 3/12734 | 4/12737 | 0/12738 | 25/12738 | 0/12727 | 36/12739 |
Odds Ratio | 4.57 | – | 1.87 | 1.25 | 0.52 | – | 1.0145 | – | 1.132 |