ArticleBMC genomics2013
The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.
Article in BMC genomics, 2013. 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, 33 citations in OpenAlex.
- Pyroptosis: Turning Up the Heat on Cancer.Annual review of immunology · 2026Review
- Review
- Pyroptosis, gasdermins and allergic diseases.Allergy · 2024Review
- Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.Cell cycle (Georgetown, Tex.) · 2023Review
- Alternative splicing ofScience immunology · 2023Article
- New Insights Relating Gasdermin B to the Onset of Childhood Asthma.American journal of respiratory cell and molecular biology · 2022Review
- African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans.Genome medicine · 2022Article
- Genetic risk variants for multiple sclerosis are linked to differences in alternative pre-mRNA splicing.Frontiers in immunology · 2022Article
- A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.Molecular genetics & genomic medicine · 2022Article
- Gasdermin-B Pro-Tumor Function in Novel Knock-in Mouse Models Depends on theFrontiers in cell and developmental biology · 2022Article
- Disparities in COVID-19 severities and casualties across ethnic groups around the globe and patterns of ACE2 and PIR variants.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2021Article
- Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African Americans.American journal of respiratory and critical care medicine · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Splice2Deep: An ensemble of deep convolutional neural networks for improved splice site prediction in genomic DNA.Gene: X · 2020Article
- Expression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study.The Lancet. Respiratory medicine · 2020Article
- Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.Neurogenetics · 2019Article
- Identification of deleterious and regulatory genomic variations in known asthma loci.Respiratory research · 2018Article
- A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis.The Journal of allergy and clinical immunology · 2018Article
- A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.The Journal of allergy and clinical immunology · 2018Review
- Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.Nature communications · 2018Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMany genetic variants have been associated with susceptibility to complex traits by genome wide association studies (GWAS), but for most, causal genes and mechanisms of action have yet to be elucidated. Using bioinformatics, we identified index and proxy variants associated with autoimmune disease susceptibility, with the potential to affect splicing of candidate genes. PCR and sequence analysis of whole blood RNA samples from population controls was then carried out for the 8 most promising variants to determine the effect of genetic variation on splicing of target genes.
resultsWe identified 31 splice site SNPs with the potential to affect splicing, and prioritised 8 to determine the effect of genotype on candidate gene splicing. We identified that variants rs11078928 and rs2014886 were associated with altered splicing of the GSDMB and TSFM genes respectively. rs11078928, present in the asthma and autoimmune disease susceptibility locus on chromosome 17q12-21, was associated with the production of a novel Δ exon5-8 transcript of the GSDMB gene, and a separate decrease in the percentage of transcripts with inclusion of exon 6, whereas the multiple sclerosis susceptibility variant rs2014886, was associated with an alternative TFSM transcript encompassing a short cryptic exon within intron 2.
conclusionsOur findings demonstrate the utility of a bioinformatic approach in identification and prioritisation of genetic variants effecting splicing of their host genes, and suggest that rs11078928 and rs2014886 may affect the splicing of the GSDMB and TSFM genes respectively.
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