Table 1.
Summary of the MTR and MTRR Data and Results Obtained Using the TDT and LRT
|
MTR A2756G |
MTRR A66G |
|||
| Variant | Proband Trios | Mother Trios | Proband Trios | Mother Trios |
| No. of complete trios (no. with one heterozygous parent, no. with two heterozygous parents) | 84 (37, 9) | 22 (7, 4) | 117 (67, 29) | 41 (26, 6) |
| No. of parent-child dyads (F-C, M-C) | 48 (5, 43) | 36 (12, 24) | 42 (3, 39) | 27 (6, 21) |
| No. of informative transmissionsa | 55 | 15 | 125 | 38 |
| No. (%) of informative transmissions ofdesignated high-risk allele | 30 (54.6) | 13 (86.7) | 58 (46.4) | 25 (65.8) |
| TDT:χ21 (P value) | 0.46 (0.50) | 8.07 (0.004) | 0.65 (0.42) | 3.79 (0.05) |
| R1 (95% CI)b | 1.18 (0.69–1.98) | 2.16 (0.92–5.06) | 0.88 (0.56–1.39) | 2.05 (1.05–3.99) |
| R2 (95% CI)b | 1.10 (0.34–3.50) | 6.58 (0.87–49.67) | 0.70 (0.36–1.36) | 3.15 (0.92–10.85) |
| Generalized LRT:χ22 (P value) | 0.33 (0.85) | 4.59 (0.10) | 1.09 (0.58) | 5.18 (0.08) |
| Linearized LRT: χ21 (P value)c | … | 4.69 (0.03) | … | 5.02 (0.02) |
a
Informative transmissions = transmissions from heterozygous parents who are members of a complete trio.
b
Estimates of R1 (R2) and 95% CIs were obtained from the generalized LRT.
c
The linearized LRT was a post hoc analysis that was applied only to data from mother trios.