ArticlePloS one2014
Mapping the genetic architecture of gene regulation in whole blood.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nature genetics · 2019Pooled it
- DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis.Blood · 2018Pooled it
- Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.Nature genetics · 2015Pooled it
- Network reconstruction for trans acting genetic loci using multi-omics data and prior information.Genome medicine · 2022Article
- Whole Blood Transcriptional Fingerprints of High-Grade Glioma and Longitudinal Tumor Evolution under Carbon Ion Radiotherapy.Cancers · 2022Article
- Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.Nature genetics · 2022Article
- Article
- Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases.Clinical epigenetics · 2021Article
- Imputed gene associations identify replicable trans-acting genes enriched in transcription pathways and complex traits.Genetic epidemiology · 2019Article
- Article
- Inborn-like errors of metabolism are determinants of breast cancer risk, clinical response and survival: a study of human biochemical individuality.Oncotarget · 2018Article
- A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver.Scientific reports · 2018Article
- Deciphering the genetic regulation of peripheral blood transcriptome in pigs through expression genome-wide association study and allele-specific expression analysis.BMC genomics · 2017Article
- Genetic architecture and regulatory impact on hepatic microRNA expression linked to immune and metabolic traits.Open biology · 2017Article
- Context-specific effects of genetic variants associated with autoimmune disease.Human molecular genetics · 2017Review
- Constraints on eQTL Fine Mapping in the Presence of Multisite Local Regulation of Gene Expression.G3 (Bethesda, Md.) · 2017Article
- Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.PLoS genetics · 2017Article
- Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations.Diabetes · 2016Article
- Association between DNA Methylation in Whole Blood and Measures of Glucose Metabolism: KORA F4 Study.PloS one · 2016Article
- Evaluation of Existing Methods for Human Blood mRNA Isolation and Analysis for Large Studies.PloS one · 2016Article
Corrections and comments
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Authors and funding
29 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe aimed to assess whether whole blood expression quantitative trait loci (eQTLs) with effects in cis and trans are robust and can be used to identify regulatory pathways affecting disease susceptibility. MATERIALS AND
methodsWe performed whole-genome eQTL analyses in 890 participants of the KORA F4 study and in two independent replication samples (SHIP-TREND, N = 976 and EGCUT, N = 842) using linear regression models and Bonferroni correction.
resultsIn the KORA F4 study, 4,116 cis-eQTLs (defined as SNP-probe pairs where the SNP is located within a 500 kb window around the transcription unit) and 94 trans-eQTLs reached genome-wide significance and overall 91% (92% of cis-, 84% of trans-eQTLs) were confirmed in at least one of the two replication studies. Different study designs including distinct laboratory reagents (PAXgene™ vs. Tempus™ tubes) did not affect reproducibility (separate overall replication overlap: 78% and 82%). Immune response pathways were enriched in cis- and trans-eQTLs and significant cis-eQTLs were partly coexistent in other tissues (cross-tissue similarity 40-70%). Furthermore, four chromosomal regions displayed simultaneous impact on multiple gene expression levels in trans, and 746 eQTL-SNPs have been previously reported to have clinical relevance. We demonstrated cross-associations between eQTL-SNPs, gene expression levels in trans, and clinical phenotypes as well as a link between eQTLs and human metabolic traits via modification of gene regulation in cis.
conclusionsOur data suggest that whole blood is a robust tissue for eQTL analysis and may be used both for biomarker studies and to enhance our understanding of molecular mechanisms underlying gene-disease associations.
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