ArticlePLoS genetics2005
Genome-wide associations of gene expression variation in humans.
Article in PLoS genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 328 papers, 8 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
328 citing papers in PubMed, 8 syntheses or guidelines pooled it, 517 citations in OpenAlex.
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- Identification of potential blood biomarkers for early diagnosis of Alzheimer's disease through RNA sequencing analysis.Alzheimer's research & therapy · 2020Pooled it
- A New Genomewide Association Meta-Analysis of Alcohol Dependence.Alcoholism, clinical and experimental research · 2015Pooled it
- Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.Human molecular genetics · 2014Pooled it
- Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.Nature genetics · 2012Pooled it
- Multicohort genomewide association study reveals a new signal of protection against HIV-1 acquisition.The Journal of infectious diseases · 2012Pooled it
- Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.PLoS genetics · 2012Pooled it
- Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.Nature genetics · 2011Pooled it
- Trial
- Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.Haematologica · 2011Trial
- Divergent jejunal cis- and trans-eQTLs and their microbiome associations following a diet lacking mineral phosphorus supplements in laying hens.BMC genomics · 2026Article
- Integrative Mapping of Regulatory Variation in African American Hepatocytes Using Colocalization and MPRA: Toward Precision Drug Response.Research square · 2026Article
- Multiple Testing of Mix-and-Match Feature Sets in Multi-Omics.Statistics in medicine · 2026Article
- Evolution of Dosage-Sensitive Genes by Tissue-Restricted Expression Changes.Genome biology and evolution · 2025Article
- Mutational landscape of HSP family on human breast cancer.Scientific reports · 2024Article
- Variation within the non-coding genome influences genetic and epigenetic regulation of the human leukocyte antigen genes.Frontiers in immunology · 2024Review
- Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases.Arteriosclerosis, thrombosis, and vascular biology · 2023Review
- Controlling gene expression with deep generative design of regulatory DNA.Nature communications · 2022Article
- Personalized 3-Gene Panel for Prostate Cancer Target Therapy.Current issues in molecular biology · 2022Article
- The New Kid on the Block: HLA-C, a Key Regulator of Natural Killer Cells in Viral Immunity.Cells · 2021Review
268 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 3 countries.
Funding
Abstract
The exploration of quantitative variation in human populations has become one of the major priorities for medical genetics. The successful identification of variants that contribute to complex traits is highly dependent on reliable assays and genetic maps. We have performed a genome-wide quantitative trait analysis of 630 genes in 60 unrelated Utah residents with ancestry from Northern and Western Europe using the publicly available phase I data of the International HapMap project. The genes are located in regions of the human genome with elevated functional annotation and disease interest including the ENCODE regions spanning 1% of the genome, Chromosome 21 and Chromosome 20q12-13.2. We apply three different methods of multiple test correction, including Bonferroni, false discovery rate, and permutations. For the 374 expressed genes, we find many regions with statistically significant association of single nucleotide polymorphisms (SNPs) with expression variation in lymphoblastoid cell lines after correcting for multiple tests. Based on our analyses, the signal proximal (cis-) to the genes of interest is more abundant and more stable than distal and trans across statistical methodologies. Our results suggest that regulatory polymorphism is widespread in the human genome and show that the 5-kb (phase I) HapMap has sufficient density to enable linkage disequilibrium mapping in humans. Such studies will significantly enhance our ability to annotate the non-coding part of the genome and interpret functional variation. In addition, we demonstrate that the HapMap cell lines themselves may serve as a useful resource for quantitative measurements at the cellular level.
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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.