Eleanor Wheeler

Type 2 diabetes genetics in 125,000 admixed adults from Mexico City

This study identifies 86 T2D GWAS associations in 125,000 admixed Mexican adults, including 21 novel signals, and highlights the role of common regulatory variation in the endocrine pancreas.

Genetic mechanisms of 184 neuro-related proteins in human plasma

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

Similar and different: systematic investigation of proteogenomic variation between sexes and its relevance for human diseases

The paper investigates sex differences in the genetic regulation of the plasma proteome and finds most genetic effects are similar between sexes, with few sex-differential effects that do not translate to disease risk.

Genome-wide association analysis and Mendelian randomization proteomics identify novel protein biomarkers and drug targets for primary prevention of heart failure

This study identifies novel genetic risk variants and potential drug targets for heart failure using GWAS and Mendelian randomization proteomics.

Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: evidence from a genome-wide association meta-analysis followed by Mendelian randomization

This study uses GWAS and Mendelian randomization to show that lower sclerostin levels increase risk of hypertension, type 2 diabetes, myocardial infarction, and atherogenic lipid profiles.

Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

From genome to phenome via the proteome: broad capture, antibody-based proteomics to explore disease mechanisms

The paper uses antibody-based proteomics to identify disease-causing genes and proteins by analyzing plasma proteome data from 1,180 individuals, finding new gene-protein-disease links and improving causal gene assignment in GWAS loci.

ELF5 is a respiratory epithelial cell-specific risk gene for severe COVID-19

This study identifies ELF5 as a risk gene for severe COVID-19 using genetic and single-cell expression data, showing its specific expression in respiratory epithelial cells.

Identification of rare loss of function variation regulating body fat distribution

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

Mapping genetic determinants of 184 circulating proteins in 26,494 individuals to connect proteins and disease.

This study identifies 592 genetic loci associated with 184 plasma proteins in 26,494 individuals and finds causal relationships between protein levels and disease.

Cross-platform proteomics to advance genetic prioritisation strategies

The paper compares pQTLs across two proteomic platforms, finding shared and platform-specific pQTLs and identifying factors contributing to platform differences.

Genetic architecture of host proteins interacting with SARS-CoV-2

The paper integrates genomic and proteomic data to identify genetic variants influencing host proteins interacting with SARS-CoV-2, revealing potential drug targets and disease mechanisms.

The influence of rare variants in circulating metabolic biomarkers

The paper identifies novel gene-trait associations and pathways involving rare variants in metabolic biomarkers linked to cardiovascular disease risk.

Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes

This study identifies genetic associations with metabolite levels across multiple cohorts and links these variants to clinical outcomes like type 2 diabetes and macular telangiectasia type 2.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.