ArticleGenetics2013
Genetic variants contribute to gene expression variability in humans.
Article in Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders.Molecular psychiatry · 2017Pooled it
- Environmental perturbation increases gene expression variability and unmasks genetic regulation for transcriptional robustness.bioRxiv : the preprint server for biology · 2026Article
- Genetic impacts on within-pair DNA methylation variance in monozygotic twins capture gene-environment interactions and cell-type effects.Genome biology · 2026Article
- Deciphering the impact of genetic variants on vulnerability to Opioid Use Disorder.Frontiers in cellular neuroscience · 2026Article
- Distributional genetic effects reveal context-dependent molecular regulation in human brain aging and Alzheimer's disease.Research square · 2025Article
- Pleiotropy, epistasis and the genetic architecture of quantitative traits.Nature reviews. Genetics · 2024Review
- Detecting genetic effects on phenotype variability to capture gene-by-environment interactions: a systematic method comparison.G3 (Bethesda, Md.) · 2024Review
- RNAseq of INOCA patients identifies innate, invariant, and acquired immune changes: potential autoimmune microvascular dysfunction.Frontiers in cardiovascular medicine · 2024Article
- eQTL studies: from bulk tissues to single cells.Journal of genetics and genomics = Yi chuan xue bao · 2023Review
- Altered Extracellular Vesicle miRNA Profile in Prodromal Alzheimer's Disease.International journal of molecular sciences · 2023Article
- Comparison of cancer subtype identification methods combined with feature selection methods in omics data analysis.BioData mining · 2023Article
- eQTL Studies: from Bulk Tissues to Single Cells.ArXiv · 2023Article
- Endogenous miRNA-Based Innate-Immunity against SARS-CoV-2 Invasion of the Brain.International journal of molecular sciences · 2023Review
- GWAS of longitudinal trajectories at biobank scale.American journal of human genetics · 2022Article
- Mathematical model for the relationship between single-cell and bulk gene expression to clarify the interpretation of bulk gene expression data.Computational and structural biotechnology journal · 2022Article
- Natural variation of the cardiac transcriptome in humans.RNA biology · 2021Article
- Variable expression quantitative trait loci analysis of breast cancer risk variants.Scientific reports · 2021Article
- Article
- How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data.Frontiers in molecular biosciences · 2021Review
- Developmental plasticity shapes social traits and selection in a facultatively eusocial bee.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
12 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Expression quantitative trait loci (eQTL) studies have established convincing relationships between genetic variants and gene expression. Most of these studies focused on the mean of gene expression level, but not the variance of gene expression level (i.e., gene expression variability). In the present study, we systematically explore genome-wide association between genetic variants and gene expression variability in humans. We adapt the double generalized linear model (dglm) to simultaneously fit the means and the variances of gene expression among the three possible genotypes of a biallelic SNP. The genomic loci showing significant association between the variances of gene expression and the genotypes are termed expression variability QTL (evQTL). Using a data set of gene expression in lymphoblastoid cell lines (LCLs) derived from 210 HapMap individuals, we identify cis-acting evQTL involving 218 distinct genes, among which 8 genes, ADCY1, CTNNA2, DAAM2, FERMT2, IL6, PLOD2, SNX7, and TNFRSF11B, are cross-validated using an extra expression data set of the same LCLs. We also identify ∼300 trans-acting evQTL between >13,000 common SNPs and 500 randomly selected representative genes. We employ two distinct scenarios, emphasizing single-SNP and multiple-SNP effects on expression variability, to explain the formation of evQTL. We argue that detecting evQTL may represent a novel method for effectively screening for genetic interactions, especially when the multiple-SNP influence on expression variability is implied. The implication of our results for revealing genetic mechanisms of gene expression variability is discussed.
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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.