Table 2. Disease Prevalence, Penetrance, and Association of the Heterozygous Myocilin (MYOC) c.1102C>T, p.(Gln368Ter) Genotype With Different Types of Glaucoma in the FinnGen Biobank Cohort.
| Phenotype | No. (%)a | Odds ratio (95% CI) | P valueb | ||
|---|---|---|---|---|---|
| Total | rs74315329 (TC) | rs74315329 (CC) | |||
| Individuals | 218 792 | 1235 (0.6) | 217 553 (99.6) | NA | NA |
| Glaucoma | 8591 (3.9) | 118 (9.6) | 8473 (3.9) | 2.58 (2.12-3.13) | <.001 |
| POAG | 3412 (1.6) | 61 (5.2) | 3351 (1.5) | 3.36 (2.55-4.37) | <.001 |
| Suspected glaucoma | 4766 (2.2) | 64 (5.4) | 4702 (2.2) | 2.53 (1.93-3.26) | <.001 |
| Exfoliation glaucoma | 1515 (0.7) | 21 (1.9) | 1494 (0.7) | 2.61 (1.6-4.02) | <.001 |
| Glaucoma-related operations | 459 (0.2) | 14 (1.1) | 445 (0.2) | 5.45 (2.95-9.28) | <.001 |
| NTG | 892 (0.4) | 8 (0.7) | 884 (0.4) | 1.69 (0.72-3.35) | .16 |
Abbreviations: NA, not applicable; NTG, normal-tension glaucoma; POAG, primary open-angle glaucoma.
a
Penetrance in cohort.
b
Fisher exact test, 2-tailed, in individuals with heterozygous variant.