Table 4. Univariate Logistic Regression Model of RB Laterality According to the RB1 Germline Pathogenic Variant Types.
| Germline pathogenic variant types | RB laterality, No. (%) | Univariate analysis | |||
|---|---|---|---|---|---|
| Unilateral (n = 109) | Bilateral (n = 497) | Total (n = 606) | Odds ratio (95% CI) | P value | |
| Absence of RB protein | |||||
| Nonsense pathogenic variants | 24 (22.0) | 198 (39.8) | 222 (36.6) | 1 [Reference] | NA |
| Frameshift | 25 (22.9) | 115 (23.1) | 140 (23.1) | 0.56 (0.30-1.02) | .06 |
| Large rearrangementa | 17 (15.6) | 48 (9.7) | 65 (10.7) | 0.34 (0.17-0.69) | <.01 |
| Splice pathogenic variant out of frame | 19 (17.4) | 91 (18.3) | 110 (18.2) | 0.58 (0.30-1.12) | .10 |
| Presence of RB protein | |||||
| Missense pathogenic variants | 13 (11.9) | 12 (2.4) | 25 (4.1) | 0.11 (0.05-0.27) | <.001 |
| In-frame deletion | 1 (0.9) | 3 (0.6) | 4 (0.7) | 0.36 (0.04-7.51) | .39 |
| Splice pathogenic variant in frame | 8 (7.3) | 27 (5.4) | 35 (5.8) | 0.41 (0.17-1.05) | .05 |
| Promoter sequence pathogenic variants | 2 (1.8) | 3 (0.6) | 5 (0.8) | 0.18 (0.03-1.43) | .07 |
Abbreviations: NA, not applicable; RB, retinoblastoma.
a
Large deletions or duplications, from a single exon to the entire gene.