Expressive

rs12374063 - EZRP1 - ALCAM

Magnitude 2.0 · 3 studies on file

Reported associations

  • The genetic architecture of human cortical folding - Science advances (2026) · van der Meer D, Kaufmann T, Shadrin AA, Makowski C, Frei O, Roelfs D, Monereo-Sánchez J, Linden DEJ, Rokicki J, Alnæs D, de Leeuw C, Thompson WK, Loughnan R, Fan CC, Westlye LT, Andreassen OA, Dale AM · 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 - NeuroImage (2022) · Shadrin AA, Kaufmann T, van der Meer D, Palmer CE, Makowski C, Loughnan R, Jernigan TL, Seibert TM, Hagler DJ, Smeland OB, Motazedi E, Chu Y, Lin A, Cheng W, Hindley G, Thompson WK, Fan CC, Holland D, Westlye LT, Frei O, Andreassen OA, Dale AM · 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

  • Shared heritability of human face and brain shape - Nature genetics (2021) · Naqvi S, Sleyp Y, Hoskens H, Indencleef K, Spence JP, Bruffaerts R, Radwan A, Eller RJ, Richmond S, Shriver MD, Shaffer JR, Weinberg SM, Walsh S, Thompson J, Pritchard JK, Sunaert S, Peeters H, Wysocka J, Claes P · 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

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