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Article
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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Article
Open AccessMulti-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide association study (GWAS) summary statistics, who...
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Article
Open AccessGenetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the...
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Article
Rare genetic variants explain missing heritability in smoking
Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contributio...
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Article
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
A Correction to this paper has been published: https://doi.org/10.1038/s41586-021-03280-1.
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Article
Open AccessLoss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without the...
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Article
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clona...
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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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...
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Article
Open AccessA continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale populatio...
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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
Open AccessITGB5 and AGFG1 variants are associated with severity of airway responsiveness
Airway hyperresponsiveness (AHR), a primary characteristic of asthma, involves increased airway smooth muscle contractility in response to certain exposures. We sought to determine whether common genetic varia...
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Article
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD
Accelerated lung function decline is a key COPD phenotype; however, its genetic control remains largely unknown. We performed a genome-wide association study using the Illumina Human660W-Quad v.1_A BeadChip. G...
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Article
Recombination rates in admixed individuals identified by ancestry-based inference
John Novembre and colleagues present a new approach for constructing recombination maps based on ancestry switch points among individuals. They construct a high-resolution genome-wide recombination map based o...
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Article
African ancestry is associated with risk of asthma and high total serum IgE in a population from the Caribbean Coast of Colombia
African descended populations exhibit an increased prevalence of asthma and allergies compared to Europeans. One approach to distinguish between environmental and genetic explanations for this difference is to...
