دورية أكاديمية
أعرض في EDS

Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry.

التفاصيل البيبلوغرافية
العنوان: Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry.
المؤلفون: Corradin O; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.; Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA., Cohen AJ; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA., Luppino JM; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA., Bayles IM; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA., Schumacher FR; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA., Scacheri PC; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.; Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, USA.
المصدر: Nature genetics [Nat Genet] 2016 Nov; Vol. 48 (11), pp. 1313-1320. Date of Electronic Publication: 2016 Sep 19.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Nature Pub. Co., c1992-
مواضيع طبية MeSH: Gene Expression Regulation* , Genetic Predisposition to Disease* , Genetic Variation* , Regulatory Elements, Transcriptional*, Chromatin/*genetics, Genome-Wide Association Study ; Humans ; Inheritance Patterns ; Linkage Disequilibrium ; Risk Assessment
مستخلص: SNPs associated with disease susceptibility often reside in enhancer clusters, or super-enhancers. Constituents of these enhancer clusters cooperate to regulate target genes and often extend beyond the linkage disequilibrium (LD) blocks containing risk SNPs identified in genome-wide association studies (GWAS). We identified 'outside variants', defined as SNPs in weak LD with GWAS risk SNPs that physically interact with risk SNPs as part of a target gene's regulatory circuitry. These outside variants further explain variation in target gene expression beyond that explained by GWAS-associated SNPs. Additionally, the clinical risk associated with GWAS SNPs is considerably modified by the genotype of outside variants. Collectively, these findings suggest a potential model in which outside variants and GWAS SNPs that physically interact in 3D chromatin collude to influence target transcript levels as well as clinical risk. This model offers an additional hypothesis for the source of missing heritability for complex traits.
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معلومات مُعتمدة: R01 CA204279 United States CA NCI NIH HHS; R01 CA160356 United States CA NCI NIH HHS; P50 CA150964 United States CA NCI NIH HHS; TL1 TR000441 United States TR NCATS NIH HHS; R01 CA143237 United States CA NCI NIH HHS; T32 GM008056 United States GM NIGMS NIH HHS; UL1 TR000439 United States TR NCATS NIH HHS; R01 CA193677 United States CA NCI NIH HHS; T32 GM007250 United States GM NIGMS NIH HHS
المشرفين على المادة: 0 (Chromatin)
تواريخ الأحداث: Date Created: 20160920 Date Completed: 20170908 Latest Revision: 20231111
رمز التحديث: 20231111
مُعرف محوري في PubMed: PMC5083135
DOI: 10.1038/ng.3674
PMID: 27643537
قاعدة البيانات: MEDLINE
الوصف
تدمد:1546-1718
DOI:10.1038/ng.3674