Table 3.
Brain white matter differences in MAP1B LoF carriers compared with controls
| White matter | MAP1B-FS | Controls-FS | β (95% CI) | P |
|---|---|---|---|---|
| Corpus callosum—anterior—volume | 431.3 (155.9) | 900.2 (153.7) | −2.6 (−3.4, −1.9) | 1.9 × 10−11 |
| Corpus callosum—posterior—volume | 472.9 (141.4) | 988.6 (156.7) | −2.5 (−3.3, −1.8) | 1.0 × 10−10 |
| Corpus callosum—total—volume | 1689.3 (426.4) | 3210.3 (486.3) | −2.4 (−3.2, −1.7) | 5.5 × 10−10 |
| LH—Cerebral white matter—volume | 190965.3 (23104.5) | 250084.3 (30115.5) | −2.2 (−2.9, −1.4) | 4.0 × 10−08 |
| Total cerebral white matter—volume | 382905.6 (46892.5) | 502178.8 (60387.8) | −2.1 (−2.9, −1.4) | 5.1 × 10−08 |
| RH—cerebral white matter—volume | 191940.3 (23831.4) | 252094.6 (30354.8) | −2.1 (−2.9, −1.3) | 6.8 × 10−08 |
| Corpus callosum—central—volume | 268.2 (56.6) | 438 (87.7) | −1.9 (−2.7, −1.1) | 1.1 × 10−06 |
| Corpus callosum—mid-posterior—volume | 245.2 (60.4) | 424.7 (92.3) | −1.8 (−2.6, −1.0) | 4.7 × 10−06 |
| Corpus callosum—mid-anterior—volume | 271.8 (80.5) | 458.8 (103.6) | −1.8 (−2.5, −1.0) | 4.8 × 10−06 |
| LH—white matter surface area | 75187.5 (8576.7) | 85866.9 (8321.5) | −1.5 (−2.3, −0.8) | 7.9 × 10−05 |
| RH—white matter surface area | 75488.3 (8865.8) | 86285.6 (8411.9) | −1.5 (−2.3, −0.8) | 8.3 × 10−05 |
The MAP1B-FS and Control-FS are unadjusted mean and SD MRI white matter volume (mm3) and grey matter volume (mm3), surface area (mm2) and thickness (mm) values derived from FS. Individuals’ FS values were inverse normal transformed and adjusted for sex, age, age2, scanner model and ICV where appropriate. The effect (β in SD) and P-value were calculated by comparing MAP1B LoF carriers (n = 10; FAM1-B1,-C1,-C2,-D1,-D2,-D3, FAM2-H1,-J1,-J2, FAM3-L1) with controls (n = 949) using a generalised least-squares regression with a variance–covariance matrix based on the kinship coefficient of each pair of individuals. See Supplementary Data 1 for the full list of 274 traits. Bonferroni significance level was set at 0.05/274 = 1.8 × 10−4
LH: left hemisphere, RH: right hemisphere, SD: standard deviation, FS: FreeSurfer