ArticleHuman genetics2015
A systematic heritability analysis of the human whole blood transcriptome.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking.Human molecular genetics · 2016Pooled it
- Diallel panel reveals a significant impact of low-frequency genetic variants on gene expression variation in yeast.Molecular systems biology · 2024Article
- Non-additive genetic components contribute significantly to population-wide gene expression variation.Cell genomics · 2024Article
- Non-additive genetic components contribute significantly to population-wide gene expression variation.bioRxiv : the preprint server for biology · 2023Article
- Diallel panel reveals a significant impact of low-frequency genetic variants on gene expression variation in yeast.bioRxiv : the preprint server for biology · 2023Article
- Altered blood gene expression in the obesity-related type 2 diabetes cluster may be causally involved in lipid metabolism: a Mendelian randomisation study.Diabetologia · 2023Article
- Blood transcriptomic biomarkers of alcohol consumption and cardiovascular disease risk factors: the Framingham Heart Study.Human molecular genetics · 2023Article
- Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases.Scientific reports · 2022Article
- Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases.Research square · 2022Article
- Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases.medRxiv : the preprint server for health sciences · 2022Article
- TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits.American journal of human genetics · 2019Article
- Article
- The Cortical Neuroimmune Regulator TANK Affects Emotional Processing and Enhances Alcohol Drinking: A Translational Study.Cerebral cortex (New York, N.Y. : 1991) · 2019Article
- Integrative Genomics Analysis Unravels Tissue-Specific Pathways, Networks, and Key Regulators of Blood Pressure Regulation.Frontiers in cardiovascular medicine · 2019Article
- Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.Human genomics · 2018Article
- Familial resemblances in human whole blood transcriptome.BMC genomics · 2018Article
- Genetic Control of Left Atrial Gene Expression Yields Insights into the Genetic Susceptibility for Atrial Fibrillation.Circulation. Genomic and precision medicine · 2018Article
- Age-associated microRNA expression in human peripheral blood is associated with all-cause mortality and age-related traits.Aging cell · 2018Article
- Genome-wide identification of microRNA expression quantitative trait loci.Nature communications · 2015Article
- Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Genome-wide expression quantitative trait locus (eQTL) mapping may reveal common genetic variants regulating gene expression. In addition to mapping eQTLs, we systematically evaluated the heritability of the whole blood transcriptome in 5,626 participants from the Framingham Heart Study. Of all gene expression measurements, about 40 % exhibit evidence of being heritable [hgeneExp(2) > 0, (p < 0.05)], the average heritability was estimated to be 0.13, and 10 % display hgeneExp(2) > 0.2. To identify the role of eQTLs in promoting phenotype differences and disease susceptibility, we investigated the proportion of cis/trans eQTLs in different heritability categories and discovered that genes with higher heritability are more likely to have cis eQTLs that explain large proportions of variance in the expression of the corresponding genes. Single cis eQTLs explain 0.33-0.53 of variance in transcripts on average, whereas single trans eQTLs only explain 0.02-0.07. The top cis eQTLs tend to explain more variance in the corresponding gene when its hgeneExp(2) is greater. Taking body mass index (BMI) as a case study, we cross-linked cis/trans eQTLs with both GWAS SNPs and differentially expressed genes for BMI. We discovered that BMI GWAS SNPs in 16p11.2 (e.g., rs7359397) are associated with several BMI differentially expressed genes in a cis manner (e.g. SULT1A1, SPNS1, and TUFM). These BMI signature genes explain a much larger proportion of variance in BMI than do the GWAS SNPs. Our results shed light on the impact of eQTLs on the heritability of the human whole blood transcriptome and its relations to phenotype differences.
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