Expressive

rs11049359 - PTHLH - CCDC91

Magnitude 2.0 · 2 studies on file

Reported associations

  • 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

  • Insights into the genetic architecture of the human face - Unknown journal (n.d.) · Unknown authors · PubMed 33288918

    ABSTRACT: The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study (GWAS) meta-analysis of 8,246 European individuals, we identified 203 genome-wide significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses find that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In sum, our analyses provide insights for understanding how complex morphological traits are shaped by both individual and co

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