Expressive

rs11042811 - AMPD3

Magnitude 2.0 · 3 studies on file

Reported associations

  • Multivariate genome-wide association study on tissue-sensitive diffusion metrics highlights pathways that shape the human brain - Nature communications (2022) · Fan CC, Loughnan R, Makowski C, Pecheva D, Chen CH, Hagler DJ, Thompson WK, Parker N, van der Meer D, Frei O, Andreassen OA, Dale AM · PubMed 35505052

    ABSTRACT: The molecular determinants of tissue composition of the human brain remain largely unknown. Recent genome-wide association studies (GWAS) on this topic have had limited success due to methodological constraints. Here, we apply advanced whole-brain analyses on multi-shell diffusion imaging data and multivariate GWAS to two large scale imaging genetic datasets (UK Biobank and the Adolescent Brain Cognitive Development study) to identify and validate genetic association signals. We discover 503 unique genetic loci that have impact on multiple regions of human brain. Among them, more than 79% are validated in either of two large-scale independent imaging datasets. Key molecular pathways involved in axonal growth, astrocyte-mediated neuroinflammation, and synaptogenesis during develop

  • Large-scale GWAS reveals genetic architecture of brain white matter microstructure and genetic overlap with cognitive and mental health traits (n=17,706) - Molecular psychiatry (2022) · Zhao B, Zhang J, Ibrahim JG, Luo T, Santelli RC, Li Y, Li T, Shan Y, Zhu Z, Zhou F, Liao H, Nichols TE, Zhu H · PubMed 31666681

    ABSTRACT: Individual variations of white matter (WM) tracts are known to be associated with various cognitive and neuropsychiatric traits. Diffusion tensor imaging (DTI) and genome-wide single-nucleotide polymorphism (SNP) data from 17,706 UK Biobank participants offer the opportunity to identify novel genetic variants of WM tracts and explore the genetic overlap with other brain-related complex traits. We analyzed the genetic architecture of 110 tract-based DTI parameters, carried out genome-wide association studies (GWAS), and performed post-GWAS analyses, including association lookups, gene-based association analysis, functional gene mapping, and genetic correlation estimation. We found that DTI parameters are substantially heritable for all WM tracts (mean heritability 48.7%). We obser

  • An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank - Nature neuroscience (2021) · Smith SM, Douaud G, Chen W, Hanayik T, Alfaro-Almagro F, Sharp K, Elliott LT · PubMed 33875891

    ABSTRACT: UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8,428 subjects. Here we present a new open resource of GWAS summary statistics, using the 2020 data release, almost tripling the discovery sample size. We now include the X chromosome, and new classes of image derived phenotypes (subcortical volumes and tissue contrast). Previously we had found 148 replicated clusters of associations between genetic variants and imaging phenotypes; here we find 692, including 12 on the X chromosome. We describe some of the newly found associations, focussing on the X chromosome and autosomal associat

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