ArticleNature genetics2017
Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 3 of them syntheses that pooled it.
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Who cites it
102 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Transcriptomic risk scores for attention deficit/hyperactivity disorder.Molecular psychiatry · 2023Pooled it
- Pooled it
- Glycosylation of Immunoglobulin G Associates With Clinical Features of Inflammatory Bowel Diseases.Gastroenterology · 2018Pooled it
- Single-cell transcriptomics provides insights into the stress-immune interplay and informs disease risk.Cell genomics · 2026Article
- Transcriptional risk score for chronic kidney disease: relation to Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- TMEM135 deficiency prevents intestinal lipid accumulation by coordinating lipid uptake and oxidation through ELOVL6-mediated PPARα activation.Experimental & molecular medicine · 2026Article
- Article
- Integrating polygenic and transcriptional risk scores for detecting Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Integrated mapping of human meniscus and cartilage eQTLs reveals shared and distinct osteoarthritis genetic drivers.medRxiv : the preprint server for health sciences · 2026Article
- eQTL in diseased colon tissue identifies potential target genes associated with IBD.Nature communications · 2026Article
- Host genotypes interact with microbial communities to modulate gene expression in the human intestine.medRxiv : the preprint server for health sciences · 2026Article
- Intestinal Goblet Cell-Expressed Reg4 Ameliorates Intestinal Inflammation Potentially by Restraining Pathogenic Escherichia coli Infection.Probiotics and antimicrobial proteins · 2025Article
- Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics.Inflammatory bowel diseases · 2025Review
- Extending gene set variation analysis with a reference dataset to stabilize scores.BMC genomics · 2025Article
- Network analysis of extraintestinal manifestations and associated autoimmune disorders in Crohn's disease and ulcerative colitis.NPJ digital medicine · 2025Article
- An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment.Cell genomics · 2025Article
- The identification of blood-derived response eQTLs reveals complex effects of regulatory variants on inflammatory and infectious disease risk.PLoS genetics · 2025Article
- Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.Nature genetics · 2024Article
- Hexokinase 2 expression in apical enterocytes correlates with inflammation severity in patients with inflammatory bowel disease.BMC medicine · 2024Article
- A broken network of susceptibility genes in the monocytes of Crohn's disease patients.Life science alliance · 2024Article
42 more citing papers are in PubMed but not listed here.
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23 authors.
Funding
Abstract
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 (TRS), should provide accurate estimates of disease risk. We integrate summary-level GWAS and expression quantitative trait locus (eQTL) data with RNA-seq data from the RISK study, an inception cohort of pediatric Crohn's disease. We show that TRSs based on genes regulated by variants linked to inflammatory bowel disease (IBD) not only outperform genetic risk scores (GRSs) in distinguishing Crohn's disease from healthy samples, but also serve to identify patients who in time will progress to complicated disease. Our dissection of eQTL effects may be used to distinguish genes whose association with disease is through promotion versus protection, thereby linking statistical association to biological mechanism. The TRS approach constitutes a potential strategy for personalized medicine that enhances inference from static genotypic risk assessment.
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