Expressive

rs11197861 - SHTN1

Magnitude 2.2 · 2 studies on file

Reported associations

  • The Genetic Architecture of the Human Corpus Callosum and its Subregions - Unknown journal (n.d.) · Unknown authors · PubMed 41188267

    ABSTRACT: The corpus callosum (CC) is the largest set of white matter fibers connecting the two hemispheres of the brain. In humans, it is essential for coordinating sensorimotor responses and performing associative or executive functions. Identifying which genetic variants underpin CC morphometry can provide molecular insights into the CC's role in mediating cognitive processes. We developed and used an artificial intelligence based tool to extract the midsagittal CC's total and regional area and thickness in two large public datasets. We performed a genome-wide association study (GWAS) meta-analysis of European participants (combined N = 46,685) with generalization to the non-European participants (combined N = 7040). Post-GWAS analyses implicated prenatal intracellular organ

  • Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases* - Unknown journal (n.d.) · Unknown authors · PubMed 35113692

    ABSTRACT: To determine the impact of genetic variants on the brain, we used genetically-informed brain atlases in genome-wide association studies of regional cortical surface area and thickness in 39,898 adults and 9136 children. We uncovered 440 genome-wide significant loci in the discovery cohort and 800 from a post-hoc combined meta-analysis. Loci in adulthood were largely captured in childhood, showing signatures of negative selection, and were linked to early neurodevelopment and pathways associated with neuropsychiatric risk. Opposing gradations of decreased surface area and increased thickness were associated with common inversion polymorphisms. Inferior frontal regions, encompassing Broca's area which is important for speech, were enriched for human-specific genomic elements. Thu

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