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Article

Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease.

Nature genetics - 1 Oct 2017

Marigorta Urko M, Denson Lee A, Hyams Jeffrey S, Mondal Kajari, Prince Jarod, Walters Thomas D, Griffiths Anne, Noe Joshua D, Crandall Wallace V, Rosh Joel R, Mack David R, Kellermayer Richard, Heyman Melvin B, Baker Susan S, Stephens Michael C, Baldassano Robert N, Markowitz James F, Kim Mi-Ok, Dubinsky Marla C, Cho Judy, Aronow Bruce J, Kugathasan Subra, Gibson Greg

Abstract excerpt

Gene expression profiling can be used to uncover the mechanisms by which loci identified through genome-wide association studies (GWAS) contribute to pathology. Given that most GWAS hits are in putative regulatory regions and transcript abundance is physiologically closer to the phenotype of interest, we hypothesized that summation of risk-allele-associated gene expression, namely a transcriptional risk score...

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Identifiers

PMID: 28805827
DOI: 10.1038/ng.3936
PMCID: PMC5745037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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