Expressive

rs1052553 - MAPT

Magnitude 2.2 · 2 studies on file

Reported associations

  • Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers - Unknown journal (n.d.) · Unknown authors · PubMed 25751624

    ABSTRACT: Genetic studies of type 1 diabetes (T1D) have identified 50 susceptibility regions (www.T1DBase.org) revealing major pathways contributing to risk, with some loci shared across immune disorders. In order to make genetic comparisons across autoimmune disorders as informative as possible a dense genotyping array, the ImmunoChip, was developed, from which four novel T1D regions were identified (P < 5 × 10−8). A comparative analysis with 15 immune diseases (www.ImmunoBase.org) revealed that T1D is more similar genetically to other autoantibody-positive diseases, most significantly to juvenile idiopathic arthritis and least to ulcerative colitis, and provided support for three additional novel T1D loci. Using a Bayesian approach, we defined credible sets for the T1D SNPs. These T1D

  • Fine-mapping, trans-ancestral, and genomic analyses identify causal variants, cells, genes, and drug targets for type 1 diabetes - Unknown journal (n.d.) · Unknown authors · PubMed 34127860

    ABSTRACT: We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date (61,427 participants), yielding 78 genome-wide significant (P < 5 × 10-8) regions, including 36 novel. We define credible sets of T1D-associated variants and show they are enriched in immune cell-accessible chromatin, particularly CD4+ effector T cells. Using chromatin accessibility profiling of CD4+ T cells from 115 individuals, we map chromatin accessibility quantitative trait loci (caQTLs) and identify five regions where T1D risk variants colocalize with caQTLs. We highlight rs72928038 in BACH2 as a candidate causal T1D variant leading to decreased enhancer accessibility and BACH2 expression in T cells. Finally, we prioritize potential drug targets by integrating genetic evidence, functional

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