Expressive

rs1122688 - SHTN1

Magnitude 4.5 · 3 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

  • Modeling the genomic architecture of adiposity and anthropometrics across the lifespan - Unknown journal (n.d.) · Unknown authors · PubMed 40796553

    ABSTRACT: Obesity-related conditions are among the leading causes of preventable death and are increasing in prevalence worldwide. Body size and composition are complex traits that are challenging to characterize due to environmental and genetic influences, longitudinal variation, heterogeneity between sexes, and differing health risks based on adipose distribution. Here, we construct a 4-factor genomic structural equation model using 18 measures, unveiling shared and distinct genetic architectures underlying birth size, abdominal size, adipose distribution, and adiposity. Multivariate genome-wide associations reveal the adiposity factor is enriched specifically in neural tissues and pathways, while adipose distribution is enriched more broadly across physiological systems. In addition, po

  • The genetic architecture of the human cerebral cortex - Unknown journal (n.d.) · Unknown authors · PubMed 32193296

    ABSTRACT: The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influen

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