Genotype frequencies of 2 variants associated with risk for stroke in patients with SCA
| . | *GOLGB1 Y1212C mutation (rs3732410) . | †ENPP1 K173Q mutation (rs1044498) . | ||||
|---|---|---|---|---|---|---|
| . | YY . | YC . | CC . | QQ . | QK . | KK . |
| Discovery (pooled WES cohorts) | ||||||
| Control (n = 104) | 76.0% | 24.0% | 0.0% | 54.4% | 39.8% | 5.8% |
| Stroke (n = 120) | 95.0% | 5.0% | 0.0% | 75.8% | 21.7% | 2.5% |
| P value | <.0001 | <.0011 | ||||
| Odds ratio | .17 | 95% CI | 0.06-0.42 | 0.44 | 95% CI | 0.27-0.72 |
| Validation (independent cohorts) | ||||||
| Control (n = 231) | 81.8% | 17.8% | 0.4% | 55.5% | 37.6% | 6.9% |
| Stroke (n = 57) | 93.0% | 7.0% | 0.0% | 67.9% | 30.3% | 1.8% |
| P value | .035 | .031 | ||||
| Odds ratio | 0.37 | 95% CI | 0.12-0.99 | 0.59 | 95% CI | 0.34-0.99 |
| . | *GOLGB1 Y1212C mutation (rs3732410) . | †ENPP1 K173Q mutation (rs1044498) . | ||||
|---|---|---|---|---|---|---|
| . | YY . | YC . | CC . | QQ . | QK . | KK . |
| Discovery (pooled WES cohorts) | ||||||
| Control (n = 104) | 76.0% | 24.0% | 0.0% | 54.4% | 39.8% | 5.8% |
| Stroke (n = 120) | 95.0% | 5.0% | 0.0% | 75.8% | 21.7% | 2.5% |
| P value | <.0001 | <.0011 | ||||
| Odds ratio | .17 | 95% CI | 0.06-0.42 | 0.44 | 95% CI | 0.27-0.72 |
| Validation (independent cohorts) | ||||||
| Control (n = 231) | 81.8% | 17.8% | 0.4% | 55.5% | 37.6% | 6.9% |
| Stroke (n = 57) | 93.0% | 7.0% | 0.0% | 67.9% | 30.3% | 1.8% |
| P value | .035 | .031 | ||||
| Odds ratio | 0.37 | 95% CI | 0.12-0.99 | 0.59 | 95% CI | 0.34-0.99 |
The frequency is given for individuals who are wild type (YY), heterozygous (YC), or homozygous (CC) for the GOLGB1 Y1212C mutation in the discovery cohorts and in the validation cohorts.
The frequency is given for individuals who are wild type (QQ), heterozygous (QK), and/or homozygous (KK) for the ENPP1 K173Q mutation in the same discovery and validation cohorts. The allele frequency of each mutation was used to perform statistical testing as described in “Methods.”