Table 4.
Brain grey matter differences in MAP1B LoF carriers compared with controls
| Grey matter | MAP1B-FS | Controls-FS | β (95% CI) | P |
|---|---|---|---|---|
| RH—lateral occipital—area | 3768.6 (336.8) | 4813.9 (618.9) | −2.1 (−2.9, −1.3) | 1.1 × 10−07 |
| RH—isthmus cingulate—volume | 1690.8 (287.0) | 2406.6 (426.9) | −2.0 (−2.8, −1.3) | 2.2 × 10−07 |
| Right thalamus proper—volume | 6056.4 (720.9) | 7099.5 (756.2) | −1.9 (−2.7, −1.2) | 7.9 × 10−07 |
| Total thalamus—volume | 12720.9 (1506.2) | 15006.4 (1608.0) | −1.9 (−2.7, −1.2) | 1.1 × 10−06 |
| RH—superior parietal—volume | 10269.2 (1554.5) | 12473.5 (1572.3) | −1.9 (−2.7, −1.1) | 1.1 × 10−06 |
| LH—postcentral—area | 3433.9 (387.5) | 4193.3 (502.1) | −1.9 (−2.7, −1.1) | 1.3 × 10−06 |
| RH—insula—thickness | 3.3 (0.1) | 3.0 (0.2) | 1.9 (1.1, 2.6) | 1.9 × 10−06 |
| RH—isthmus cingulate—area | 697.0 (83.3) | 962.5 (165.6) | −1.9 (−2.6, −1.1) | 2.0 × 10−06 |
| LH—superior parietal—volume | 10221.1 (1301.4) | 12567.8 (1661.6) | −1.8 (−2.5, −1.0) | 4.9 × 10−06 |
| RH—lingual—volume | 5014.4 (689.2) | 6379.8 (911.4) | −1.8 (−2.6, −1.0) | 5.3 × 10−06 |
| LH—postcentral—volume | 7424.0 (727.9) | 9164.1 (1327.5) | −1.7 (−2.5, −1.0) | 9.3 × 10−06 |
| Left thalamus proper—volume | 6664.5 (838.1) | 7906.9 (930.3) | −1.7 (−2.5, −1.0) | 1.1 × 10−05 |
| RH—lateral orbito frontal—area | 2247.6 (287.6) | 2678.3 (312.4) | −1.7 (−2.4, −0.9) | 1.9 × 10−05 |
| RH—rostral middle frontal—area | 5043.1 (825.1) | 5987.8 (778.0) | −1.7 (−2.4, −0.9) | 2.2 × 10−05 |
| RH—lateral occipital—volume | 9177.2 (1004.8) | 11253.2 (1607.7) | −1.6 (−2.4, −0.9) | 2.4 × 10−05 |
| LH—pericalcarine—area | 1025.0 (208.3) | 1431.4 (240.6) | −1.6 (−2.4, −0.9) | 2.5 × 10−05 |
| RH—supramarginal—volume | 8493.2 (1189.4) | 9937 (1474.5) | −1.6 (−2.4, −0.9) | 3.5 × 10−05 |
| LH—precuneus—volume | 7665.6 (1201.7) | 9202.4 (1259.4) | −1.6 (−2.4, −0.8) | 4.0 × 10−05 |
| LH—superior parietal—area | 4524.4 (632.9) | 5480.6 (652.4) | −1.6 (−2.3, −0.8) | 5.3 × 10−05 |
| LH—caudal middle frontal—volume | 5046.0 (1235) | 6265.4 (1168.2) | −1.6 (−2.3, −0.8) | 5.6 × 10−05 |
| LH—caudal middle frontal—area | 1872.9 (395.3) | 2357.7 (386.6) | −1.6 (−2.3, −0.8) | 6.9 × 10−05 |
| RH—supramarginal—area | 3140.5 (543.8) | 3717.1 (510.1) | −1.6 (−2.3, −0.8) | 8.6 × 10−05 |
| LH—inferior temporal—area | 2853.9 (423.8) | 3477.8 (467.4) | −1.5 (−2.3, −0.8) | 8.8 × 10−05 |
| LH—inferior parietal—area | 3881.0 (729.8) | 4648.8 (634.0) | −1.5 (−2.3, −0.7) | 1.3 × 10−04 |
| RH—parsorbitalis—area | 675.0 (98.6) | 778.9 (107.8) | −1.5 (−2.3, −0.7) | 1.3 × 10−04 |
| LH—inferior parietal—volume | 10169.3 (1777.0) | 12202.0 (1838.4) | −1.5 (−2.3, −0.7) | 1.4 × 10−04 |
| RH—caudal middle frontal—area | 1700.7 (328.7) | 2199.7 (383.0) | −1.5 (−2.3, −0.7) | 1.5 × 10−04 |
| RH—precentral—area | 4096.8 (569.3) | 4820.5 (574.8) | −1.5 (−2.3, −0.7) | 1.6 × 10−04 |
| RH—lingual—area | 2548.2 (274.5) | 3175.1 (396.4) | −1.5 (−2.2, −0.7) | 1.7 × 10−04 |
The MAP1B-FS and Control-FS are unadjusted mean and standard deviation (SD) MRI white matter volume (mm3) and grey matter volume (mm3), surface area (mm2) and thickness (mm) values derived from FreeSurfer (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