Table 4 Brain grey matter differences in MAP1B LoF carriers compared with controls

From: MAP1B mutations cause intellectual disability and extensive white matter deficit

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
  1. 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
  2. LH: left hemisphere, RH: right hemisphere, SD: standard deviation, FS: FreeSurfer