ArticleNature genetics2012
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 330 papers, 13 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
330 citing papers in PubMed, 13 syntheses or guidelines pooled it, 505 citations in OpenAlex.
- Genome-wide association study reveals a novel tuberculosis susceptibility locus in multiple East Asian and European populations.Genome medicine · 2026Pooled it
- European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.Nature communications · 2023Pooled it
- A resource for integrated genomic analysis of the human liver.Scientific reports · 2022Pooled it
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura.Haematologica · 2022Pooled it
- Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.Nature genetics · 2021Pooled it
- Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.Nature genetics · 2018Pooled it
- Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood.Nature communications · 2018Pooled it
- Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.Nature genetics · 2017Pooled it
- Genetic regulation of gene expression in the epileptic human hippocampus.Human molecular genetics · 2017Pooled it
- Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.Nature genetics · 2016Pooled it
- Pooled it
- Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nature genetics · 2016Pooled it
- Discovering in vivo cytokine-eQTL interactions from a lupus clinical trial.Genome biology · 2018Trial
- Network-based analysis reveals novel gene signatures in peripheral blood of patients with chronic obstructive pulmonary disease.Respiratory research · 2017Trial
- Personalized single-cell transcriptomics reveals molecular diversity in Alzheimer's disease.Nature communications · 2026Article
- Genetic overlap between autoimmune disorders and anorexia nervosa: insights from a large-scale cross-trait genome-wide analysis.Journal of eating disorders · 2026Article
- Integrating Genetics and Environment to Find Causal Mechanisms for Multiple Sclerosis.European journal of immunology · 2026Review
- Regulatory risk loci link disrupted androgen response to the pathophysiology of polycystic ovary syndrome.Journal of the Endocrine Society · 2026Article
- Integrated RNA-seq and sQTL analysis reveal immune and splicing regulatory features underlying relapse and remission after treatment of Graves' disease.Frontiers in endocrinology · 2026Article
270 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Trans-acting genetic variants have a substantial, albeit poorly characterized, role in the heritable determination of gene expression. Using paired purified primary monocytes and B cells, we identify new predominantly cell type-specific cis and trans expression quantitative trait loci (eQTLs), including multi-locus trans associations to LYZ and KLF4 in monocytes and B cells, respectively. Additionally, we observe a B cell-specific trans association of rs11171739 at 12q13.2, a known autoimmune disease locus, with IP6K2 (P = 5.8 × 10(-15)), PRIC285 (P = 3.0 × 10(-10)) and an upstream region of CDKN1A (P = 2 × 10(-52)), suggesting roles for cell cycle regulation and peroxisome proliferator-activated receptor γ (PPARγ) signaling in autoimmune pathogenesis. We also find that specific human leukocyte antigen (HLA) alleles form trans associations with the expression of AOAH and ARHGAP24 in monocytes but not in B cells. In summary, we show that mapping gene expression in defined primary cell populations identifies new cell type-specific trans-regulated networks and provides insights into the genetic basis of disease susceptibility.
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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.