ArticleHuman molecular genetics2012
The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 5 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 5 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifieseLife · 2023Pooled it
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- Trans-ethnic meta-analysis of white blood cell phenotypes.Human molecular genetics · 2014Pooled it
- Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.Nature communications · 2014Pooled it
- Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.American journal of human genetics · 2014Pooled it
- Trans-eQTL hotspots shape complex traits by modulating cellular states.Cell genomics · 2025Article
- Predictive Role of Cluster Bean (Genes · 2024Article
- Screening and verification of prognostic lncRNA markers related to immune infiltration in the metastasis of osteosarcoma.Translational cancer research · 2022Article
- Where Are the Disease-Associated eQTLs?Trends in genetics : TIG · 2021Review
- Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes.Disease markers · 2021Article
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- Using pseudoalignment and base quality to accurately quantify microbial community composition.PLoS computational biology · 2018Article
- Impact of regulatory variation across human iPSCs and differentiated cells.Genome research · 2018Article
- Rare non-coding variants are associated with plasma lipid traits in a founder population.Scientific reports · 2017Article
- Genotype-based gene signature of glioma risk.Neuro-oncology · 2017Article
- Host genetic variation in mucosal immunity pathways influences the upper airway microbiome.Microbiome · 2017Article
- Integrated analyses of gene expression and genetic association studies in a founder population.Human molecular genetics · 2016Article
- Exploiting Gene-Expression Deconvolution to Probe the Genetics of the Immune System.PLoS computational biology · 2016Article
- Genome-Wide Methylation Study Identifies an IL-13-induced Epigenetic Signature in Asthmatic Airways.American journal of respiratory and critical care medicine · 2016Article
- Discover hidden splicing variations by mapping personal transcriptomes to personal genomes.Nucleic acids research · 2015Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Recent genome-wide association studies (GWAS) have identified a number of novel genetic associations with complex human diseases. In spite of these successes, results from GWAS generally explain only a small proportion of disease heritability, an observation termed the 'missing heritability problem'. Several sources for the missing heritability have been proposed, including the contribution of many common variants with small individual effect sizes, which cannot be reliably found using the standard GWAS approach. The goal of our study was to explore a complimentary approach, which combines GWAS results with functional data in order to identify novel genetic associations with small effect sizes. To do so, we conducted a GWAS for lymphocyte count, a physiologic quantitative trait associated with asthma, in 462 Hutterites. In parallel, we performed a genome-wide gene expression study in lymphoblastoid cell lines from 96 Hutterites. We found significant support for genetic associations using the GWAS data when we considered variants near the 193 genes whose expression levels across individuals were most correlated with lymphocyte counts. Interestingly, these variants are also enriched with signatures of an association with asthma susceptibility, an observation we were able to replicate. The associated loci include genes previously implicated in asthma susceptibility as well as novel candidate genes enriched for functions related to T cell receptor signaling and adenosine triphosphate synthesis. Our results, therefore, establish a new set of asthma susceptibility candidate genes. More generally, our observations support the notion that many loci of small effects influence variation in lymphocyte count and asthma susceptibility.
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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.