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Article
Sleeve Gastrectomy is Associated with Longitudinal Improvements in Lung Function and Patient-Reported Respiratory Outcomes
Obesity exerts negative effects on pulmonary function through proven mechanical and biochemical pathways. Multiple studies have suggested that bariatric surgery can improve lung function. However, the timing o...
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Article
Open AccessValidation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere le...
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Article
Open AccessAn intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 month...
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Article
Open AccessInterferon-alpha or -beta facilitates SARS-CoV-2 pulmonary vascular infection by inducing ACE2
Severe viral pneumonia caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is characterized by a hyperinflammatory state typified by elevated circulating pro-inflammatory cytokines, freq...
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Open AccessAuthor Correction: Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-22939-x
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Article
Open AccessPharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis
Treatment of patients with the rare disease eosinophilic granulomatosis with polyangiitis (EGPA) with mepolizumab, a monoclonal antibody to interleukin-5 (IL-5) that reduces blood eosinophil counts, as an add-...
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Article
Open AccessDiscovering the genes mediating the interactions between chronic respiratory diseases in the human interactome
The molecular and clinical features of a complex disease can be influenced by other diseases affecting the same individual. Understanding disease-disease interactions is therefore crucial for revealing shared ...
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Article
Open AccessExpression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy
Global gene expression levels are known to be highly dependent upon gross demographic features including age, yet identification of age-related genomic indicators has yet to be comprehensively undertaken in a ...
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Article
Open AccessTargeted deletion of NFAT-Interacting-Protein-(NIP) 45 resolves experimental asthma by inhibiting Innate Lymphoid Cells group 2 (ILC2)
Here we investigated the role of NFAT-interacting protein (NIP)-45, an Interleukin (IL)-4 inducing Transcription Factor, and its impact on the differentiation of Group 2 Innate -Lymphoid -Cells (ILC2s) in the ...
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Article
Open AccessChildhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study
Childhood asthma is strongly influenced by genetics and is a risk factor for reduced lung function and chronic obstructive pulmonary disease (COPD) in adults. This study investigates self-reported childhood as...
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Open AccessA Nasal Brush-based Classifier of Asthma Identified by Machine Learning Analysis of Nasal RNA Sequence Data
Asthma is a common, under-diagnosed disease affecting all ages. We sought to identify a nasal brush-based classifier of mild/moderate asthma. 190 subjects with mild/moderate asthma and controls underwent nasal...
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Article
Open AccessPublisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in b...
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Article
Open AccessA PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”....
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Article
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse popu...
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Article
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types
Shamil Sunyaev, Chris Cotsapas and colleagues present a joint likelihood framework for determining the statistical evidence of shared genetic effects of overlap** disease-associated loci and expression quant...
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Article
Open AccessGene expression network analyses in response to air pollution exposures in the trucking industry
Exposure to air pollution, including traffic-related pollutants, has been associated with a variety of adverse health outcomes, including increased cardiopulmonary morbidity and mortality, and increased lung c...
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Article
Nuclear bioavailability of the glucocorticoid receptor in a pediatric asthma cohort with variable corticosteroid responsiveness
Despite the overall effectiveness of glucocorticoids (GCs) in the treatment of asthma, a large proportion of patients do not fully respond to this medication. The objective of the present study was to investig...
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Article
Open AccessEthnic-specific associations of rare and low-frequency DNA sequence variants with asthma
Common variants at many loci have been robustly associated with asthma but explain little of the overall genetic risk. Here we investigate the role of rare (<1%) and low-frequency (1–5%) variants using the Ill...
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Article
Circadian rhythm reprogramming during lung inflammation
Circadian rhythms are known to regulate immune responses in healthy animals, but it is unclear whether they persist during acute illnesses where clock gene expression is disrupted by systemic inflammation. Her...
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Article
Open AccessIntegrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis
Allergic rhinitis is a common disease whose genetic basis is incompletely explained. We report an integrated genomic analysis of allergic rhinitis.