ArticlePloS one2017
A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Glutathione S-transferase gene polymorphisms and risk of nasal or colorectal polyposis.Bioscience reports · 2019Pooled it
- Epigenetic modifications are associated with mRNA and cytokine expression changes in chronic rhinosinusitis: a multiomics study from the United States.Frontiers in allergy · 2025Article
- Increased glycolysis and cellular crosstalk in eosinophilic chronic rhinosinusitis with nasal polyps.Frontiers in immunology · 2024Article
- Integrative analysis of immune-related signature profiles in eosinophilic chronic rhinosinusitis with nasal polyposis.FEBS open bio · 2023Article
- Insights into the epigenetics of chronic rhinosinusitis with and without nasal polyps: a systematic review.Frontiers in allergy · 2023Review
- Multiple genetic variations of chronic rhinosinusitis with nasal polyps are associated with respiratory parameters in men with obstructive sleep apnea.Sleep & breathing = Schlaf & Atmung · 2022Article
- Transcriptional Changes in Chronic Rhinosinusitis with Asthma Favor a Type 2 Molecular Endotype Independent of Polyp Status.Journal of asthma and allergy · 2021Article
- Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.Frontiers in genetics · 2020Review
- Regional differences in endoscopic sinus surgery in Finland: a nationwide register-based study.BMJ open · 2018Observational
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe pathogenesis of chronic rhinosinusitis with nasal polyps is largely unknown. Previous studies have given valuable information about genetic variants associated with this disease but much is still unexplained. Our goal was to identify genetic markers and genes associated with susceptibility to chronic rhinosinusitis with nasal polyps using a family-based genome-wide association study.
methods427 patients (293 males and 134 females) with CRSwNP and 393 controls (175 males and 218 females) were recruited from several Swedish hospitals. SNP association values were generated using DFAM (implemented in PLINK) and Efficient Mixed Model Association eXpedited (EMMAX). Analyses of pathway enrichment, gene expression levels and expression quantitative trait loci were then performed in turn.
resultsNone of the analysed SNPs reached genome wide significant association of 5.0 x 10-8. Pathway analyses using our top 1000 markers with the most significant association p-values resulted in 138 target genes. A comparison between our target genes and gene expression data from the NCBI Gene Expression Omnibus database showed significant overlap for 36 of these genes. Comparisons with data from expression quantitative trait loci showed the most skewed allelic distributions in cases with chronic rhinosinusitis with nasal polyps compared with controls for the genes HLCS, HLA-DRA, BICD2, VSIR and SLC5A1.
conclusionOur study indicates that HLCS, HLA-DRA, BICD2, VSIR and SLC5A1 could be involved in the pathogenesis of chronic rhinosinusitis with nasal polyps. HLA-DRA has been associated with chronic rhinosinusitis with nasal polyps in previous studies and HLCS, BICD2, VSIR and SLC5A1 may be new targets for future research.
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