58 Result(s)
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Article
Terri H Beaty
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Open AccessMulti-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations
Asthma has striking disparities across ancestral groups, but the molecular underpinning of these differences is poorly understood and minimally studied. A goal of the Consortium on Asthma among African-ancestr...
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Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that there are genetic differences between the different phenotyp...
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Open AccessXanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure
Sepsis and associated organ failures confer substantial morbidity and mortality. Xanthine oxidoreductase (XOR) is implicated in the development of tissue oxidative damage in a wide variety of respiratory and c...
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Open AccessX chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
The association between genetic variants on the X chromosome to risk of COPD has not been fully explored. We hypothesize that the X chromosome harbors variants important in determining risk of COPD related phe...
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Open AccessWhole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact pr...
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Open AccessWhole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-...
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Open AccessAuthor Correction: Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessReplicated methylation changes associated with eczema herpeticum and allergic response
Although epigenetic mechanisms are important risk factors for allergic disease, few studies have evaluated DNA methylation differences associated with atopic dermatitis (AD), and none has focused on AD with ec...
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Open AccessDSP variants may be associated with longitudinal change in quantitative emphysema
Emphysema, characterized by lung destruction, is a key component of Chronic Obstructive Pulmonary Disease (COPD) and is associated with increased morbidity and mortality. Genome-wide association studies (GWAS)...
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Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
An amendment to this paper has been published and can be accessed via a link at the top of the paper
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Article
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 2...
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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association st...
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Open AccessAssociation study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations
Asthma is a complex disease with striking disparities across racial and ethnic groups. Despite its relatively high burden, representation of individuals of African ancestry in asthma genome-wide association st...
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Author Correction: Assembly of a pan-genome from deep sequencing of 910 humans of African descent
In the version of this article initially published, the statement “there are no pan-genomes for any other animal or plant species” was incorrect. The statement has been corrected to “there are no reported pan-...
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Open AccessAssembly of a pan-genome from deep sequencing of 910 humans of African descent
We used a deeply sequenced dataset of 910 individuals, all of African descent, to construct a set of DNA sequences that is present in these individuals but missing from the reference human genome. We aligned 1...
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Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide, and long-term oxygen therapy has been shown to reduce mortality in COPD patients with severe hypoxemia. However, the Long-ter...
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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 AccessIntegration of Molecular Interactome and Targeted Interaction Analysis to Identify a COPD Disease Network Module
The polygenic nature of complex diseases offers potential opportunities to utilize network-based approaches that leverage the comprehensive set of protein-protein interactions (the human interactome) to identi...
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Open AccessThe genetics of smoking in individuals with chronic obstructive pulmonary disease
Smoking is the principal modifiable environmental risk factor for chronic obstructive pulmonary disease (COPD) which affects 300 million people and is the 3rd leading cause of death worldwide. Most of the gene...
