ArticleAmerican journal of human genetics2015
Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.Nature genetics · 2018Pooled it
- IgG Idiotype Diversity Shapes Cytokine Profiles and Autoantibody Targets in HTLV-1 Clinical Outcomes.International journal of molecular sciences · 2025Article
- Identification of the shared genetic architecture underlying seven autoimmune diseases with GWAS summary statistics.Frontiers in immunology · 2023Article
- Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.Nature genetics · 2022Article
- A comparison of transcriptome analysis methods with reference genome.BMC genomics · 2022Article
- Relationship between allergic sensitisation-associated single-nucleotide polymorphisms and allergic transfusion reactions and febrile non-haemolytic transfusion reactions in paediatric cases.Blood transfusion = Trasfusione del sangue · 2022Article
- Predict long-range enhancer regulation based on protein-protein interactions between transcription factors.Nucleic acids research · 2021Article
- Influence of pentoxifylline on gene expression of PAG1/ miR-1206/ SNHG14 in ischemic heart disease.Biochemistry and biophysics reports · 2021Article
- Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits.Nature genetics · 2020Article
- Advances in asthma and allergic disease genetics: Is bigger always better?The Journal of allergy and clinical immunology · 2019Review
- Identification of cancer sex-disparity in the functional integrity of p53 and its X chromosome network.Nature communications · 2019Article
- The Post-GWAS Era: From Association to Function.American journal of human genetics · 2018Review
- Histone modifications and their role in epigenetics of atopy and allergic diseases.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2018Review
- Lessons from ten years of genome-wide association studies of asthma.Clinical & translational immunology · 2017Review
- Functional dissection of breast cancer risk-associatedOncotarget · 2017Article
- Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling.The Journal of allergy and clinical immunology · 2017Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this study was to identify the target gene(s) and the functional variant(s) underlying the association between rs7009110 on chromosome 8q21 and allergies. Eight genes are located within 1 Mb of rs7009110. Multivariate association analysis of publicly available exon expression levels from lymphoblastoid cell lines (LCLs) identified a significant association between rs7009110 and the expression of a single gene, PAG1 (p = 0.0017), 732 kb away. Analysis of histone modifications and DNase I hypersensitive sites in LCLs identified four putative regulatory elements (PREs) in the region. Chromosome conformation capture confirmed that two PREs interacted with the PAG1 promoter, one in allele-specific fashion. To determine whether these PREs were functional, LCLs were transfected with PAG1 promoter-driven luciferase reporter constructs. PRE3 acted as a transcriptional enhancer for PAG1 exclusively when it carried the rs2370615:C allergy predisposing allele, a variant in complete linkage disequilibrium with rs7009110. As such, rs2370615, which overlaps RelA transcription factor (TF) binding in LCLs and was found to disrupt Foxo3a binding to PRE3, represents the putative functional variant in this locus. Our studies suggest that the risk-associated allele of rs2370615 predisposes to allergic disease by increasing PAG1 expression, which might promote B cell activation and have a pro-inflammatory effect. Inhibition of PAG1 expression or function might have therapeutic potential for allergic diseases.
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