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Open AccessIntegrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 1...
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Open AccessAuthor Correction: Genoty**, sequencing and analysis of 140,000 adults from Mexico City
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Open AccessA large meta-analysis identifies genes associated with anterior uveitis
Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27. We report AU exome sequencing results from eight independent cohorts ...
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Open AccessGenome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association meta-analysis from 14 discovery cohorts and uncovered 141 independent as...
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Open AccessGenoty**, sequencing and analysis of 140,000 adults from Mexico City
The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City1. Here we generated genotype and ...
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Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
In this study, we leveraged the combined evidence of rare coding variants and common alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale multiancestry exome-wide association st...
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Open AccessRare coding variants in CHRNB2 reduce the likelihood of smoking
Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to identify drug targets. We performed an exome-wide association...
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Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes
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Open AccessImplicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understandi...
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Open AccessDiscovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery d...
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Common and rare variant associations with clonal haematopoiesis phenotypes
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been associated with ageing and adverse health outcomes1–5. Here we use exome sequence data on 628,388 individuals to identify 4...
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Open AccessANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma
Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological chang...
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Article
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn’s disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncodin...
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Open AccessMultiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the U...
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Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter of a million cases, in which existing studies are integrated with data from cohorts of white, Bl...
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Open AccessWhole-genome sequencing reveals host factors underlying critical COVID-19
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2...
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Open AccessPopulation-scale analysis of common and rare genetic variation associated with hearing loss in adults
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing lo...
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A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
Nonalcoholic fatty liver disease (NAFLD) is a growing cause of chronic liver disease. Using a proxy NAFLD definition of chronic elevation of alanine aminotransferase (cALT) levels without other liver diseases,...
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Open AccessUGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab
Sarilumab is a human monoclonal antibody against interleukin (IL)-6Rα that has been approved for the treatment of adult patients with moderately to severely active rheumatoid arthritis (RA) and an inadequate r...
