ArticleAmerican journal of human genetics2009
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00021840 (Genetic Epidemiology of Asthma in Costa Rica), which is not on this map. Cited by 172 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Epidemiology of Asthma in Costa Rica
Who cites it
172 citing papers in PubMed, 4 syntheses or guidelines pooled it, 297 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
- The GSDMB rs7216389 SNP is associated with chronic rhinosinusitis in a multi-institutional cohort.International forum of allergy & rhinology · 2021Pooled it
- A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.The European respiratory journal · 2017Pooled it
- Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12.American journal of human genetics · 2012Pooled it
- Decreased sphingolipid synthesis in children with 17q21 asthma-risk genotypes.The Journal of clinical investigation · 2020Trial
- A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes.The Journal of allergy and clinical immunology · 2014Trial
- A functional synonymous coding variant in the IL1RN gene is associated with survival in septic shock.American journal of respiratory and critical care medicine · 2014Trial
- Deletion of the T1D risk geneBiochemistry and biophysics reports · 2026Article
- Review
- Functional sequence variants of intergenic long noncoding RNA on chromosome 17q21 are associated with asthma.The European respiratory journal · 2025Article
- Airway Epithelium Derived from Induced Pluripotent Stem Cells to Model Asthma Susceptibility Loci.American journal of respiratory and critical care medicine · 2025Article
- Article
- Association of 17q12-q21 Asthma Risk Locus with Clinical Severity of Infant Respiratory Syncytial Virus Infection.Biomolecules · 2025Article
- A review of recent advances in gene therapy, pharmacogenomics, and genetic polymorphisms in asthma.Molecular biology reports · 2025Review
- Parent-of-Origin Effects in Childhood Asthma at Seven Years of Age.Genetic epidemiology · 2025Article
- Multi-omics analysis in primary T cells elucidates mechanisms behind disease-associated genetic loci.Genome biology · 2025Article
- Review
- Article
- Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes.Journal of human genetics · 2024Article
- Sequence variants influencing the regulation of serum IgG subclass levels.Nature communications · 2024Article
112 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 9 institutions in 3 countries.
Funding
Abstract
Common SNPs in the chromosome 17q12-q21 region alter the risk for asthma, type 1 diabetes, primary biliary cirrhosis, and Crohn disease. Previous reports by us and others have linked the disease-associated genetic variants with changes in expression of GSDMB and ORMDL3 transcripts in human lymphoblastoid cell lines (LCLs). The variants also alter regulation of other transcripts, and this domain-wide cis-regulatory effect suggests a mechanism involving long-range chromatin interactions. Here, we further dissect the disease-linked haplotype and identify putative causal DNA variants via a combination of genetic and functional analyses. First, high-throughput resequencing of the region and genotyping of potential candidate variants were performed. Next, additional mapping of allelic expression differences in Yoruba HapMap LCLs allowed us to fine-map the basis of the cis-regulatory differences to a handful of candidate functional variants. Functional assays identified allele-specific differences in nucleosome distribution, an allele-specific association with the insulator protein CTCF, as well as a weak promoter activity for rs12936231. Overall, this study shows a common disease allele linked to changes in CTCF binding and nucleosome occupancy leading to altered domain-wide cis-regulation. Finally, a strong association between asthma and cis-regulatory haplotypes was observed in three independent family-based cohorts (p = 1.78 x 10(-8)). This study demonstrates the requirement of multiple parallel allele-specific tools for the investigation of noncoding disease variants and functional fine-mapping of human disease-associated haplotypes.
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What OpenQuestion holds
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.