Mendelian randomization: concepts and scope

RC Richmond, GD Smith - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
Mendelian randomization (MR) is a method of studying the causal effects of modifiable
exposures (ie, potential risk factors) on health, social, and economic outcomes using genetic …

GDF15: emerging biology and therapeutic applications for obesity and cardiometabolic disease

D Wang, EA Day, LK Townsend, D Djordjevic… - Nature Reviews …, 2021 - nature.com
Abstract Growth differentiation factor 15 (GDF15) is a member of the TGFβ superfamily
whose expression is increased in response to cellular stress and disease as well as by …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

Large-scale integration of the plasma proteome with genetics and disease

E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …

Stroke genetics informs drug discovery and risk prediction across ancestries

A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba… - Nature, 2022 - nature.com
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …

The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Mapping the human genetic architecture of COVID-19

Writing group Writing group leaders Pathak Gita A. 6 … - Nature, 2021 - nature.com
The genetic make-up of an individual contributes to the susceptibility and response to viral
infection. Although environmental, clinical and social factors have a role in the chance of …

[PDF][PDF] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …

Mapping the proteo-genomic convergence of human diseases

M Pietzner, E Wheeler, J Carrasco-Zanini, A Cortes… - Science, 2021 - science.org
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …

Plasma proteomic associations with genetics and health in the UK Biobank

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - Nature, 2023 - nature.com
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …