ArticlePloS one2011
The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci†.Human molecular genetics · 2015Trial
- Characterization of genome-wide STR variation in 6487 human genomes.Nature communications · 2023Article
- Mediation model with a categorical exposure and a censored mediator with application to a genetic study.PloS one · 2021Article
- Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx.Genome biology · 2020Article
- The impact of short tandem repeat variation on gene expression.Nature genetics · 2019Article
- Robust imaging and gene delivery to study human lymphoblastoid cell lines.Journal of human genetics · 2018Article
- Computational discovery of transcription factors associated with drug response.The pharmacogenomics journal · 2016Article
- eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene.Journal of applied genetics · 2016Article
- Genetics of allergic diseases.Immunology and allergy clinics of North America · 2015Review
- Robust Linear Models for Cis-eQTL Analysis.PloS one · 2015Article
- Heritability and genomics of gene expression in peripheral blood.Nature genetics · 2014Article
- A genetic model of differential susceptibility to human respiratory syncytial virus (RSV) infection.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2014Article
- Systems genetics approaches to understand complex traits.Nature reviews. Genetics · 2014Review
- Article
- The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.BMC genomics · 2013Article
- Role of interactions in pharmacogenetic studies: leukotrienes in asthma.Pharmacogenomics · 2013Article
- Transcription factor and chromatin features predict genes associated with eQTLs.Nucleic acids research · 2013Article
- Post genome-wide association studies functional characterization of prostate cancer risk loci.BMC genomics · 2013Article
- Single cell expression quantitative trait loci and complex traits.Genome medicine · 2013Article
- Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 5 countries.
Funding
Abstract
The integrated analysis of genotypic and expression data for association with complex traits could identify novel genetic pathways involved in complex traits. We profiled 19,573 expression probes in Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs) from 299 twins and correlated these with 44 quantitative traits (QTs). For 939 expressed probes correlating with more than one QT, we investigated the presence of eQTL associations in three datasets of 57 CEU HapMap founders and 86 unrelated twins. Genome-wide association analysis of these probes with 2.2 m SNPs revealed 131 potential eQTLs (1,989 eQTL SNPs) overlapping between the HapMap datasets, five of which were in cis (58 eQTL SNPs). We then tested 535 SNPs tagging the eQTL SNPs, for association with the relevant QT in 2,905 twins. We identified nine potential SNP-QT associations (P<0.01) but none significantly replicated in five large consortia of 1,097-16,129 subjects. We also failed to replicate previous reported eQTL associations with body mass index, plasma low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides levels derived from lymphocytes, adipose and liver tissue. Our results and additional power calculations suggest that proponents may have been overoptimistic in the power of LCLs in eQTL approaches to elucidate regulatory genetic effects on complex traits using the small datasets generated to date. Nevertheless, larger tissue-specific expression data sets relevant to specific traits are becoming available, and should enable the adoption of similar integrated analyses in the near future.
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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.