ArticleBMC medical genetics2012
Whole-exome sequencing of a pedigree segregating asthma.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population.HGG advances · 2024Article
- Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma.The Journal of allergy and clinical immunology · 2024Article
- Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans.The Journal of allergy and clinical immunology · 2023Article
- Multi-Omics Profiling Approach to Asthma: An Evolving Paradigm.Journal of personalized medicine · 2022Review
- Genetic ancestry differences in pediatric asthma readmission are mediated by socioenvironmental factors.The Journal of allergy and clinical immunology · 2021Article
- E3 ubiquitin ligase Casitas B lineage lymphoma-b and its potential therapeutic implications for immunotherapy.Clinical and experimental immunology · 2021Review
- Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes.Disease markers · 2021Article
- Regulation of Treg Functions by the Ubiquitin Pathway.Advances in experimental medicine and biology · 2021Article
- Identification of rare variants of allergic rhinitis based on whole genome sequencing and gene expression profiling: A preliminary investigation in four families.The World Allergy Organization journal · 2019Article
- Genomic Predictors of Asthma Phenotypes and Treatment Response.Frontiers in pediatrics · 2019Review
- A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability.Biological psychiatry · 2018Article
- Article
- Identification of miRNA biomarkers of pneumonia using RNA-sequencing and bioinformatics analysis.Experimental and therapeutic medicine · 2017Article
- Are genetic tests informative in predicting food allergy?Current opinion in allergy and clinical immunology · 2016Review
- Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing.Translational research : the journal of laboratory and clinical medicine · 2016Review
- Sequencing study on familial lung squamous cancer.Oncology letters · 2015Article
- Genetics of adolescent idiopathic scoliosis in the post-genome-wide association study era.Annals of translational medicine · 2015Article
- Genetics of allergic diseases.Immunology and allergy clinics of North America · 2015Review
- Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.Nature communications · 2015Article
- Mapping asthma-associated variants in admixed populations.Frontiers in genetics · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundDespite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered. Some of this "missing heritability" may be accounted for by family-specific coding variants found to be segregating with asthma.
methodsTo identify family-specific variants segregating with asthma, we recruited one family from a previous study of asthma as reporting multiple asthmatic and non-asthmatic children. We performed whole-exome sequencing on all four children and both parents and identified coding variants segregating with asthma that were not found in other variant databases.
resultsTen novel variants were identified that were found in the two affected offspring and affected mother, but absent in the unaffected father and two unaffected offspring. Of these ten, variants in three genes (PDE4DIP, CBLB, and KALRN) were deemed of particular interest based on their functional prediction scores and previously reported function or asthma association. We did not identify any common risk variants segregating with asthma, however, we did observe an increase in the number of novel, nonsynonymous variants in asthma candidate genes in the asthmatic children compared to the non-asthmatic children.
conclusionsThis is the first report applying exome sequencing to identify asthma susceptibility variants. Despite having sequenced only one family segregating asthma, we have identified several potentially functional variants in interesting asthma candidate genes. This will provide the basis for future work in which more families will be sequenced to identify variants across families that cluster within genes.
Indexed as
Identifiers
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.