ArticlePLoS genetics2012
Patterns of cis regulatory variation in diverse human populations.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 319 papers, 9 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
319 citing papers in PubMed, 9 syntheses or guidelines pooled it, 517 citations in OpenAlex.
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- Systematic review of gastric cancer-associated genetic variants, gene-based meta-analysis, and gene-level functional analysis to identify candidate genes for drug development.Frontiers in genetics · 2022Pooled it
- Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations.Translational psychiatry · 2018Pooled it
- Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population.Oncotarget · 2016Pooled it
- Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.Nature genetics · 2016Pooled it
- Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1.Biological psychiatry · 2015Pooled it
- Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus.Arthritis research & therapy · 2015Pooled it
- Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.Human molecular genetics · 2015Pooled it
- Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach.BioMed research international · 2015Pooled it
- Discovering in vivo cytokine-eQTL interactions from a lupus clinical trial.Genome biology · 2018Trial
- Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese.Scientific reports · 2017Trial
- Associations of polygenic risk scores for type 2 diabetes with metabolic measures in Pacific Islanders from Guam and Saipan.Journal of human genetics · 2026Article
- Potentially Functional Variants in FCER1A and PLCG2, Two B Cell-Related Immune Genes Predict the Survival of Chinese Gastric Cancer Patients.Molecular carcinogenesis · 2026Article
- Epigenetic modulation of prostate cancer disparities in men with African ancestry.Nature reviews. Urology · 2026Review
- Characterizing breed-shared and breed-specific genetic regulatory effects of gene expression across three pig breeds.Journal of animal science and biotechnology · 2026Article
- Mendelian randomization facilitates identification of schizophrenia risk enhancer RNAs.Molecular psychiatry · 2026Article
- A functional ancestry-linked regulatory haplotype influences CYP2D6 expression.The pharmacogenomics journal · 2026Article
- Virtual Cells Need Context, Not Just Scale.bioRxiv : the preprint server for biology · 2026Article
- A Functional Variant ofJournal of asthma and allergy · 2026Article
- Genetic variants ofFrontiers in immunology · 2026Article
259 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
18 authors at 6 institutions in 4 countries.
Funding
Abstract
The genetic basis of gene expression variation has long been studied with the aim to understand the landscape of regulatory variants, but also more recently to assist in the interpretation and elucidation of disease signals. To date, many studies have looked in specific tissues and population-based samples, but there has been limited assessment of the degree of inter-population variability in regulatory variation. We analyzed genome-wide gene expression in lymphoblastoid cell lines from a total of 726 individuals from 8 global populations from the HapMap3 project and correlated gene expression levels with HapMap3 SNPs located in cis to the genes. We describe the influence of ancestry on gene expression levels within and between these diverse human populations and uncover a non-negligible impact on global patterns of gene expression. We further dissect the specific functional pathways differentiated between populations. We also identify 5,691 expression quantitative trait loci (eQTLs) after controlling for both non-genetic factors and population admixture and observe that half of the cis-eQTLs are replicated in one or more of the populations. We highlight patterns of eQTL-sharing between populations, which are partially determined by population genetic relatedness, and discover significant sharing of eQTL effects between Asians, European-admixed, and African subpopulations. Specifically, we observe that both the effect size and the direction of effect for eQTLs are highly conserved across populations. We observe an increasing proximity of eQTLs toward the transcription start site as sharing of eQTLs among populations increases, highlighting that variants close to TSS have stronger effects and therefore are more likely to be detected across a wider panel of populations. Together these results offer a unique picture and resource of the degree of differentiation among human populations in functional regulatory variation and provide an estimate for the transferability of complex trait variants across populations.
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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.