Toby Johnson
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View article: Variable information across SNPs in GWAS data can cause false rejections of colocalisation which can be resolved by proportional colocalisation tests
Variable information across SNPs in GWAS data can cause false rejections of colocalisation which can be resolved by proportional colocalisation tests Open
Fine-mapping is now a standard post-GWAS analysis, but it has been shown to be potentially inaccurate for large meta-analysis GWAS. We show how this can be caused by variable amounts of statistical information between variants, e.g. due to…
View article: P-215. Screening to Prophylax against <i>Clostridioides difficile</i> Infection: A Trial of Primary Prophylaxis in <i>C. difficile</i> Carriers
P-215. Screening to Prophylax against <i>Clostridioides difficile</i> Infection: A Trial of Primary Prophylaxis in <i>C. difficile</i> Carriers Open
Background Clostridioides difficile infection (CDI) is one of the five urgent threats identified by the Centers for Diseases Control and Prevention (CDC). In addition to actual infection, C. difficile can colonize patients, particularly th…
View article: Supplement from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer
Supplement from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer Open
Supplementary Table S1. Summary of eight pazopanib (monotherapy) clinical studies included in the discovery pharmacogenetic liver toxicity analysis Supplementary Table S2. Summary of 23 pazopanib clinical studies included in the confirmato…
View article: Supplement from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer
Supplement from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer Open
Supplementary Table S1. Summary of eight pazopanib (monotherapy) clinical studies included in the discovery pharmacogenetic liver toxicity analysis Supplementary Table S2. Summary of 23 pazopanib clinical studies included in the confirmato…
View article: Data from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer
Data from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer Open
Purpose: Pazopanib is an effective treatment for advanced renal cell carcinoma and soft-tissue sarcoma. Transaminase elevations have been commonly observed in pazopanib-treated patients. We conducted pharmacogenetic analyses to explore mec…
View article: Data from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer
Data from <i>HLA-B</i>*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer Open
Purpose: Pazopanib is an effective treatment for advanced renal cell carcinoma and soft-tissue sarcoma. Transaminase elevations have been commonly observed in pazopanib-treated patients. We conducted pharmacogenetic analyses to explore mec…
View article: Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification
Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification Open
Homeostatic control of blood glucose requires different physiological responses in the fasting and post-prandial states. We reasoned that glucose measurements under non-standardised conditions (random glucose; RG) may capture diverse gluco…
View article: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability Open
Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, th…
View article: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Open
Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approxi…
View article: Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci Open
Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C…
View article: Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci Open
Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ∼50,000 SNPs in …
View article: Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene
Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene Open
Calcium has a pivotal role in biological functions, and serum calcium levels have been associated with numerous disorders of bone and mineral metabolism, as well as with cardiovascular mortality. Here we report results from a genome-wide a…
View article: Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Open
Circulating glucose levels are tightly regulated. To identify novel glycemic loci, we performed meta-analyses of 21 genome-wide associations studies informative for fasting glucose (FG), fasting insulin (FI) and indices of β-cell function …
View article: Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways Open
Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have raised the number of confirmed loci influencing glycemic …
View article: Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function Open
Pulmonary function measures reflect respiratory health and predict mortality, and are used in the diagnosis of chronic obstructive pulmonary disease (COPD). We tested genome-wide association with the forced expiratory volume in 1 second (F…
View article: Genome-wide association study identifies eight loci associated with blood pressure
Genome-wide association study identifies eight loci associated with blood pressure Open
Christopher Newton-Cheh and colleagues report a genome-wide association study for blood pressure traits as part of the Global BPgen consortium. They report eight loci with replicated association to systolic and/or diastolic blood pressure,…
View article: Discovery and refinement of loci associated with lipid levels
Discovery and refinement of loci associated with lipid levels Open
Low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, and total cholesterol are heritable, modifiable, risk factors for coronary artery disease. To identify new loci and refine known loci inf…
View article: A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance Open
Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction, but contributed little to our understanding of the genetic basis of insulin resistance. We hypot…
View article: Biological, clinical and population relevance of 95 loci for blood lipids
Biological, clinical and population relevance of 95 loci for blood lipids Open
Serum concentrations of total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) are among the most important risk factors for coronary artery disease (CAD) and ar…
View article: Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge Open
Glucose levels 2 h after an oral glucose challenge are a clinical measure of glucose tolerance used in the diagnosis of type 2 diabetes. We report a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals)…
View article: Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations Open
Waist circumference (WC) and waist-to-hip ratio (WHR) are surrogate measures of central adiposity that are associated with adverse cardiovascular events, type 2 diabetes and cancer independent of body mass index (BMI). WC and WHR are highl…
View article: Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass Open
A correction to this article has been published and is linked from the HTML version of this article.
View article: The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals Open
To dissect the genetic architecture of blood pressure and assess effects on target-organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry and genotypes from an additional 140…
View article: Genome-wide meta-analysis, fine-mapping, and integrative prioritization identify new Alzheimer’s disease risk genes
Genome-wide meta-analysis, fine-mapping, and integrative prioritization identify new Alzheimer’s disease risk genes Open
Genome-wide association studies (GWAS) have discovered numerous genomic loci associated with Alzheimer’s disease (AD), yet the causal genes and variants remain incompletely identified. We performed an updated genome-wide AD meta-analysis, …