rs11720653 - TBC1D5

Magnitude 4.5 · 4 studies on file

Reported associations

• Shared heritability of human face and brain shape - Unknown journal (n.d.) · Unknown authors · PubMed 33821002

  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 (GWAS) of cortical surface morphology in 19,644 European-ancestry individuals, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to facial shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face crosstalk. 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 GWAS si

• The genetic architecture of human cortical folding - Unknown journal (n.d.) · Unknown authors · PubMed 34910505

  ABSTRACT: The first genome-wide study of sulcal depth shows that it is highly genetically discoverable, associated with neurodevelopment. The folding of the human cerebral cortex is a highly genetically regulated process that allows for a much larger surface area to fit into the cranial vault and optimizes functional organization. Sulcal depth is a robust yet understudied measure of localized folding, previously associated with multiple neurodevelopmental disorders. Here, we report the first genome-wide association study of sulcal depth. Through the multivariate omnibus statistical test (MOSTest) applied to vertex-wise measures from 33,748 U.K. Biobank participants (mean age, 64.3 years; 52.0% female), we identified 856 genome-wide significant loci (P < 5 × 10−8). Comparisons with corti

• Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology - Unknown journal (n.d.) · Unknown authors · PubMed 34560273

  ABSTRACT: Brain morphology has been shown to be highly heritable, yet only a small portion of the heritability is explained by the genetic variants discovered so far. Here we extended the Multivariate Omnibus Statistical Test (MOSTest) and applied it to genome-wide association studies (GWAS) of vertex-wise structural magnetic resonance imaging (MRI) cortical measures from N=35,657 participants in the UK Biobank. We identified 695 loci for cortical surface area and 539 for cortical thickness, in total 780 unique genetic loci associated with cortical morphology robustly replicated in 8,060 children of mixed ethnicity from the Adolescent Brain Cognitive Development (ABCD) Study®. This reflects more than 8-fold increase in genetic discovery at no cost to generalizability compared to the commo

• Genetic architecture of the white matter connectome of the human brain - Unknown journal (n.d.) · Unknown authors · PubMed 36800424

  ABSTRACT: White matter tracts form the structural basis of large-scale brain networks. We applied brain-wide tractography to diffusion images from 30,810 adults (U.K. Biobank) and found significant heritability for 90 node-level and 851 edge-level network connectivity measures. Multivariate genome-wide association analyses identified 325 genetic loci, of which 80% had not been previously associated with brain metrics. Enrichment analyses implicated neurodevelopmental processes including neurogenesis, neural differentiation, neural migration, neural projection guidance, and axon development, as well as prenatal brain expression especially in stem cells, astrocytes, microglia, and neurons. The multivariate association profiles implicated 31 loci in connectivity between core regions of the le

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