Publications by authors named "Robert P Chase"

Article Synopsis
  • Genome-wide association studies (GWAS) have linked various genetic loci to chronic obstructive pulmonary disease (COPD), and integrating these with expression quantitative trait locus (eQTL) studies can reveal important biological mechanisms by identifying SNPs affecting gene expression.
  • This study utilized RNA sequencing data from a large cohort, examining both whole blood and lung tissue, to identify single nucleotide polymorphisms (SNPs) associated with alternative splicing (sQTL) and gene expression (eQTL) related to COPD.
  • The results highlighted 28,110 splice sites related to 3,889 genes in blood and 58,258 splice sites for 10,307 genes in lung tissue, uncovering shared and unique s
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While many disease-associated single nucleotide polymorphisms (SNPs) are expression quantitative trait loci (eQTLs), a large proportion of genome-wide association study (GWAS) variants are of unknown function. Alternative polyadenylation (APA) plays an important role in posttranscriptional regulation by allowing genes to shorten or extend 3' untranslated regions (UTRs). We hypothesized that genetic variants that affect APA in lung tissue may lend insight into the function of respiratory associated GWAS loci.

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Article Synopsis
  • * Researchers developed a new subtyping pipeline that combines clinical data and gene expression using variational autoencoders, creating Personalized Integrated Profiles (PIPs) that better represent the complexity of COPD.
  • * The study identified five distinct COPD subtypes with unique clinical features and molecular profiles, demonstrating improved robustness over traditional methods and providing insights into their associations with disease outcomes.
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Background: Piwi-interacting RNAs (piRNAs), comprising the largest noncoding RNA group, regulate transcriptional processes. Whether piRNAs are associated with type 2 (T2)-high asthma is unknown.

Objective: We sought to investigate the association between piRNAs and T2-high asthma in childhood asthma.

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Detection of viruses by RNA and DNA sequencing has improved the understanding of the human virome. We sought to identify blood viral signatures through secondary use of RNA-sequencing (RNA-seq) data in a large study cohort. The ability to reveal undiagnosed infections with public health implications among study subjects with available sequencing data could enable epidemiologic surveys and may lead to diagnosis and therapeutic interventions, leveraging existing research data in a clinical context.

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Background: Chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are characterized by shared exposures and clinical features, but distinct genetic and pathologic features exist. These features have not been well-studied using large-scale gene expression datasets. We hypothesized that there are divergent gene, pathway, and cellular signatures between COPD and IPF.

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The human microbiome has a role in the development of multiple diseases. Individual microbiome profiles are highly personalized, though many species are shared. Understanding the relationship between the human microbiome and disease may inform future individualized treatments.

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Introduction: Asthma is a complex disease with heterogeneous expression/severity. There is growing interest in defining asthma endotypes consistently associated with different responses to therapy, focusing on type 2 inflammation (Th2) as a key pathological mechanism. Current asthma endotypes are defined primarily by clinical/laboratory criteria.

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Objective: To characterize longitudinal changes in blood biomarkers, leukocyte composition, and gene expression following laparoscopic sleeve gastrectomy (LSG).

Background: LSG is an effective treatment for obesity, leading to sustainable weight loss and improvements in obesity-related comorbidities and inflammatory profiles. However, the effects of LSG on immune function and metabolism remain uncertain.

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Objective: To characterize longitudinal changes in blood biomarkers, leukocyte composition, and gene expression following laparoscopic sleeve gastrectomy (LSG).

Background: LSG is an effective treatment for obesity, leading to sustainable weight loss and improvements in obesity-related co-morbidities and inflammatory profiles. However, the effects of LSG on immune function and metabolism remain uncertain.

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Inhaled corticosteroids (ICS) are key treatments for controlling asthma and preventing asthma attacks. However, the responsiveness to ICS varies among individuals. MicroRNAs (miRNAs) have been lauded for their prognostic utility.

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Small RNA-Seq is a common means to interrogate the small RNA'ome or the full spectrum of small RNAs (<200 nucleotide length) of a biological system. A pivotal problem in NGS based small RNA analysis is identifying and quantifying the small RNA'ome constituent components. For example, small RNAs in the circulatory system (circulating RNAs) are potential disease biomarkers and their function is being actively investigated.

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Article Synopsis
  • The authors of the original article have updated an accession number.
  • This update is found in the "Availability of data and materials" section.
  • The change was made after the original publication.
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While many disease-associated single nucleotide polymorphisms (SNPs) are associated with gene expression (expression quantitative trait loci, eQTLs), a large proportion of complex disease genome-wide association study (GWAS) variants are of unknown function. Some of these SNPs may contribute to disease by regulating gene splicing. Here, we investigate whether SNPs that are associated with alternative splicing (splice QTL or sQTL) can identify novel functions for existing GWAS variants or suggest new associated variants in chronic obstructive pulmonary disease (COPD).

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Background: Multiple gene expression studies have been performed separately in peripheral blood, lung, and airway tissues to study COPD. We performed RNA-sequencing gene expression profiling of large-airway epithelium, alveolar macrophage and peripheral blood samples from the same subset of COPD cases and controls from the COPDGene study who underwent bronchoscopy at a single center. Using statistical and gene set enrichment approaches, we sought to improve the understanding of COPD by studying gene sets and pathways across these tissues, beyond the individual genomic determinants.

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Article Synopsis
  • Cigarette smoking is the top modifiable risk factor for disease, and this study uses RNA sequencing to explore its effects on gene expression and regulatory mechanisms linked to health issues from smoking.
  • The researchers analyzed whole-blood samples from current and former smokers, identifying 171 genes with significant expression differences while controlling for various demographic and health-related factors.
  • The findings highlight specific genes and exons that show distinct changes due to smoking, providing insights into the molecular processes related to smoking-related diseases.
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Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 13 new associations with COPD.

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Chronic lung disease of prematurity/bronchopulmonary dysplasia (BPD) is the leading cause of perinatal morbidity in developed countries. Inflammation is a prominent finding. Currently available interventions have associated toxicities and limited efficacy.

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Background: Asthma exacerbations are a major cause of morbidity and medical cost.

Objective: The objective of this study was to identify genetic predictors of exacerbations in asthmatic subjects.

Methods: We performed a genome-wide association study meta-analysis of acute asthma exacerbation in 2 pediatric clinical trials: the Childhood Asthma Management Program (n = 581) and the Childhood Asthma Research and Education (n = 205) network.

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