Nigel W. Rayner
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View article: Associations of Combined Genetic and Lifestyle Risks with Incident Type 2 Diabetes in the UK Biobank
Associations of Combined Genetic and Lifestyle Risks with Incident Type 2 Diabetes in the UK Biobank Open
Background Type 2 diabetes (T2D) results from a complex interplay between genetic predisposition and lifestyle factors. Both genetic susceptibility and unhealthy lifestyle are known to be associated with elevated T2D risk. However, their c…
View article: Mendelian randomization suggests a causal link between glycemic traits and thoracic aortic structures and diseases
Mendelian randomization suggests a causal link between glycemic traits and thoracic aortic structures and diseases Open
Importance Type 2 diabetes mellitus (T2DM) and elevated glucose levels have been inversely associated with aortic aneurysms. However, the causality of this relationship remains uncertain. Additionally, there is a lack of studies investigat…
View article: Insights into the metabolic consequences of type 2 diabetes
Insights into the metabolic consequences of type 2 diabetes Open
Circulating metabolite levels have been associated with type 2 diabetes (T2D), but the extent to which these are affected by T2D and the involvement of genetics in mediating these relationships remain to be elucidated. In this study, we in…
View article: SCAS dashboard: A tool to intuitively and interactivelyanalyze Slurm cluster usage
SCAS dashboard: A tool to intuitively and interactivelyanalyze Slurm cluster usage Open
Many organizations offer High Performance Computing (HPC) environments as a service, hosted on-premises or in the cloud.Compute jobs are commonly managed via Slurm (Yoo et al., 2003), but an intuitive, easy-to-use and interactive visualiza…
View article: Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications Open
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes. To characterise the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study (GW…
View article: Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research
Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research Open
Reading difficulties are prevalent worldwide, including in economically developed countries, and are associated with low academic achievement and unemployment. Longitudinal studies have identified several early childhood predictors of read…
View article: Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity Open
Here we report a heterozygous tandem duplication at the ASIP (agouti signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme childhood obesity. The mutation places ASIP under control of th…
View article: Identifying causal serum protein–cardiometabolic trait relationships using whole genome sequencing
Identifying causal serum protein–cardiometabolic trait relationships using whole genome sequencing Open
Cardiometabolic diseases, such as type 2 diabetes and cardiovascular disease, have a high public health burden. Understanding the genetically determined regulation of proteins that are dysregulated in disease can help to dissect the comple…
View article: A community driven GWAS summary statistics standard
A community driven GWAS summary statistics standard Open
Summary statistics from genome-wide association studies (GWAS) represent a huge potential for research. A challenge for researchers in this field is the access and sharing of summary statistics data due to a lack of standards for the data …
View article: Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy Open
Figure 1.In Fig. 1f, due to a production error, the large panels for Ap4e1 -/-mutant and control were interchanged and have been restored.In Fig. 1d,
View article: Genome-Wide Association Study of Peripheral Artery Disease
Genome-Wide Association Study of Peripheral Artery Disease Open
Background: Peripheral artery disease (PAD) affects >200 million people worldwide and is associated with high mortality and morbidity. We sought to identify genomic variants associated with PAD overall and in the contexts of diabetes and s…
View article: Genome-Wide Association Study of Peripheral Artery Disease
Genome-Wide Association Study of Peripheral Artery Disease Open
Background:\nPeripheral artery disease (PAD) affects >200 million people worldwide and is associated with high mortality and morbidity. We sought to identify genomic variants associated with PAD overall and in the contexts of diabetes and …
View article: Whole-genome sequencing analysis of the cardiometabolic proteome
Whole-genome sequencing analysis of the cardiometabolic proteome Open
The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensively assess the genetic architect…
View article: Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus Open
Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants co…
View article: Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes Open
To extend understanding of the genetic architecture and molecular basis of type 2 diabetes (T2D), we conducted a meta-analysis of genetic variants on the Metabochip involving 34,840 cases and 114,981 controls, overwhelmingly of European de…
View article: Genome-wide meta-analysis of common variant differences between men and women
Genome-wide meta-analysis of common variant differences between men and women Open
The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological …
View article: Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation Open
We assembled an ancestrally diverse collection of genome-wide association studies of type 2 diabetes (T2D) in 180,834 cases and 1,159,055 controls (48.9% non-European descent). We identified 277 loci at genome-wide significance ( p <5×10 -…
View article: Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus Open
Background: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). Methods: To test whether this reflects differential genetic influences on CAD risk in subjects with T2D, we performed a systematic as…
View article: The genetic architecture of type 2 diabetes
The genetic architecture of type 2 diabetes Open
The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common …
View article: Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension Open
High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296…
View article: An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans Open
To characterise type 2 diabetes (T2D) associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D cases and 132,532 controls of European ancestry after imputation …
View article: A Dietary Pattern with High Sugar Content Is Associated with Cardiometabolic Risk Factors in the Pomak Population
A Dietary Pattern with High Sugar Content Is Associated with Cardiometabolic Risk Factors in the Pomak Population Open
The present study describes the geographically isolated Pomak population and its particular dietary patterns in relationship to cardiovascular risk factors. We collected a population-based cohort in a cross-sectional study, with detailed a…
View article: Whole genome sequencing analysis of the cardiometabolic proteome
Whole genome sequencing analysis of the cardiometabolic proteome Open
The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensively assess the genetic architect…