Expressive

rs10120688 - CDKN2B-AS1

Magnitude 2.0 · 4 studies on file

Reported associations

  • Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations - Cell genomics (2024) · Gelernter J, Levey DF, Galimberti M, Harrington K, Zhou H, Adhikari K, Gupta P, Gaziano JM, Eliott D, Stein MB · PubMed 38870908

    ABSTRACT: Summary Epiretinal membrane (ERM) is a common retinal condition characterized by the presence of fibrocellular tissue on the retinal surface, often with visual distortion and loss of visual acuity. We studied European American (EUR), African American (AFR), and Latino (admixed American, AMR) ERM participants in the Million Veteran Program (MVP) for genome-wide association analysis-a total of 38,232 case individuals and 557,988 control individuals. We completed a genome-wide association study (GWAS) in each population separately, and then results were meta-analyzed. Genome-wide significant (GWS) associations were observed in all three populations studied: 31 risk loci in EUR subjects, 3 in AFR, and 2 in AMR, with 48 in trans-ancestry meta-analysis. Many results replicated in the

  • The genetic architecture of the corpus callosum and its genetic overlap with common neuropsychiatric diseases. - Journal of affective disorders (2023) · Chen SJ, Wu BS, Ge YJ, Chen SD, Ou YN, Dong Q, Feng J, Cheng W, Yu JT · PubMed 37164063

    The corpus callosum (CC) is the main structure transferring information between the cerebral hemispheres. Although previous large-scale genome-wide association study (GWAS) has illustrated the genetic architecture of white matter integrity of CC, CC volume is less stressed. Using MRI data from 33,861 individuals in UK Biobank, we conducted univariate and multivariate GWAS for CC fractional anisotropy (FA) and volume with PLINK 2.0 and MOSTest. All discovered SNPs in the multivariate framework were functionally annotated in FUMA v1.3.8. In the meanwhile, a series of gene property analyses was conducted simultaneously. In addition, we estimated genetic relationship between CC metrics and other neuropsychiatric traits and diseases. We identified a total of 36 and 82 significant genomic loci f

  • 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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