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Shared heritability of human face and brain shape.

ABSTRACT: Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face cross-talk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain-face genome-wide association study signals and variants affecting behavioral-cognitive traits. These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function.

SUBMITTER: Naqvi S

PROVIDER: S-EPMC8232039 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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Shared heritability of human face and brain shape.

Naqvi Sahin S Sleyp Yoeri Y Hoskens Hanne H Indencleef Karlijne K Spence Jeffrey P JP Bruffaerts Rose R Radwan Ahmed A Eller Ryan J RJ Richmond Stephen S Shriver Mark D MD Shaffer John R JR Weinberg Seth M SM Walsh Susan S Thompson James J Pritchard Jonathan K JK Sunaert Stefan S Peeters Hilde H Wysocka Joanna J Claes Peter P

Nature genetics 20210405 6

Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as wel ...[more]

PMID: 33821002

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Project description:ObjectiveHead motions during brain PET scan cause degradation of brain images, but head fixation or external-maker attachment become burdensome on patients. Therefore, we have developed a motion correction method that uses a 3D face-shape model generated by a range-sensing camera (Kinect) and by CT images. We have successfully corrected the PET images of a moving mannequin-head phantom containing radioactivity. Here, we conducted a volunteer study to verify the effectiveness of our method for clinical data.MethodsEight healthy men volunteers aged 22-45 years underwent a 10-min head-fixed PET scan as a standard of truth in this study, which was started 45 min after 18F-fluorodeoxyglucose (285 ± 23 MBq) injection, and followed by a 15-min head-moving PET scan with the developed Kinect based motion-tracking system. First, selecting a motion-less period of the head-moving PET scan provided a reference PET image. Second, CT images separately obtained on the same day were registered to the reference PET image, and create a 3D face-shape model, then, to which Kinect-based 3D face-shape model matched. This matching parameter was used for spatial calibration between the Kinect and the PET system. This calibration parameter and the motion-tracking of the 3D face shape by Kinect comprised our motion correction method. The head-moving PET with motion correction was compared with the head-fixed PET images visually and by standard uptake value ratios (SUVRs) in the seven volume-of-interest regions. To confirm the spatial calibration accuracy, a test-retest experiment was performed by repeating the head-moving PET with motion correction twice where the volunteer's pose and the sensor's position were different.ResultsNo difference was identified visually and statistically in SUVRs between the head-moving PET images with motion correction and the head-fixed PET images. One of the small nuclei, the inferior colliculus, was identified in the head-fixed PET images and in the head-moving PET images with motion correction, but not in those without motion correction. In the test-retest experiment, the SUVRs were well correlated (determinant coefficient, r2 = 0.995).ConclusionOur motion correction method provided good accuracy for the volunteer data which suggested it is useable in clinical settings.

Dataset Information

Shared heritability of human face and brain shape.

Publications

Shared heritability of human face and brain shape.

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