ArticleHuman molecular genetics2015
Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 4 of them syntheses that pooled it.
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Who cites it
94 citing papers in PubMed, 4 syntheses or guidelines pooled it, 169 citations in OpenAlex.
- The aging epigenome: integrative analyses reveal intersection with Alzheimer's disease.GeroScience · 2026Pooled it
- Epigenome-wide meta-analysis of DNA methylation differences in prefrontal cortex implicates the immune processes in Alzheimer's disease.Nature communications · 2020Pooled it
- A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity.Human molecular genetics · 2019Pooled it
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.Nature genetics · 2016Pooled it
- Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms.Nature communications · 2018Trial
- From aging to Alzheimer's disease: concordant brain DNA methylation changes in late life.Genome medicine · 2026Article
- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- Transcriptional mechanisms of sex-biased gene expression and their connections to disease-associated variation.Human molecular genetics · 2026Article
- Integration of dilated cardiomyopathy genomics with transcriptomics from the human heart implicates regulatory molecular mechanisms.medRxiv : the preprint server for health sciences · 2026Article
- Unveiling Epigenetic Molecular Mechanisms in Bone Fracture Risk: Insights From 731 Immune Cells, 1400 Metabolites, and Critical Genetic Pathways.Mediators of inflammation · 2026Article
- DNA methylation signatures of Life's Essential 8 and their implications for dementia.Alzheimer's research & therapy · 2025Article
- Type 1 Diabetes Genetics Consortium.The Journal of clinical endocrinology and metabolism · 2025Review
- DNA methylation signature of a lifestyle-based resilience index for cognitive health.Alzheimer's research & therapy · 2025Article
- Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities.Nature communications · 2025Article
- Blood DNA methylation signature for incident dementia: Evidence from longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Large-scale multi-omics identifies drug targets for heart failure with reduced and preserved ejection fraction.Nature cardiovascular research · 2025Article
- Integrated TWAS, GWAS, and RNAseq results identify candidate genes associated with reproductive traits in cows.Scientific reports · 2025Article
- CD4International journal of molecular sciences · 2024Article
- Genetic effects on the skin methylome in healthy older twins.American journal of human genetics · 2024Article
- An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues.American journal of human genetics · 2024Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
The genes and cells that mediate genetic associations identified through genome-wide association studies (GWAS) are only partially understood. Several studies that have investigated the genetic regulation of gene expression have shown that disease-associated variants are over-represented amongst expression quantitative trait loci (eQTL) variants. Evidence for colocalisation of eQTL and disease causal variants can suggest causal genes and cells for these genetic associations. Here, we used colocalisation analysis to investigate whether 595 genetic associations to ten immune-mediated diseases are consistent with a causal variant that regulates, in cis, gene expression in resting B cells, and in resting and stimulated monocytes. Previously published candidate causal genes were over-represented amongst genes exhibiting colocalisation (odds ratio > 1.5), and we identified evidence for colocalisation (posterior odds > 5) between cis eQTLs in at least one cell type and at least one disease for six genes: ADAM15, RGS1, CARD9, LTBR, CTSH and SYNGR1. We identified cell-specific effects, such as for CTSH, the expression of which in monocytes, but not in B cells, may mediate type 1 diabetes and narcolepsy associations in the chromosome 15q25.1 region. Our results demonstrate the utility of integrating genetic studies of disease and gene expression for highlighting causal genes and cell types.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.