Mendelian randomization: causal inference leveraging genetic data

LG Chen, JD Tubbs, Z Liu, TQ Thach… - Psychological …, 2024 - cambridge.org
Mendelian randomization (MR) leverages genetic information to examine the causal
relationship between phenotypes allowing for the presence of unmeasured confounders …

Causal inference in cancer epidemiology: what is the role of Mendelian randomization?

J Yarmolinsky, KH Wade, RC Richmond… - Cancer Epidemiology …, 2018 - aacrjournals.org
Observational epidemiologic studies are prone to confounding, measurement error, and
reverse causation, undermining robust causal inference. Mendelian randomization (MR) …

A generalized linear mixed model association tool for biobank-scale data

L Jiang, Z Zheng, H Fang, J Yang - Nature genetics, 2021 - nature.com
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag… - Nature, 2021 - nature.com
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

Collider bias undermines our understanding of COVID-19 disease risk and severity

GJ Griffith, TT Morris, MJ Tudball, A Herbert… - Nature …, 2020 - nature.com
Numerous observational studies have attempted to identify risk factors for infection with
SARS-CoV-2 and COVID-19 disease outcomes. Studies have used datasets sampled from …

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

KJ Karczewski, M Solomonson, KR Chao, JK Goodrich… - Cell genomics, 2022 - cell.com
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …

Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning

Y Liu, N Basty, B Whitcher, JD Bell, EP Sorokin… - elife, 2021 - elifesciences.org
Cardiometabolic diseases are an increasing global health burden. While socioeconomic,
environmental, behavioural, and genetic risk factors have been identified, a better …

The MR-Base platform supports systematic causal inference across the human phenome

G Hemani, J Zheng, B Elsworth, KH Wade… - elife, 2018 - elifesciences.org
Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …

MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam, A Williamson, S Finer, FR Day, JA Tadross… - Nature, 2021 - nature.com
The state of somatic energy stores in metazoans is communicated to the brain, which
regulates key aspects of behaviour, growth, nutrient partitioning and development. The …

Characterization of genetic variants of GIPR reveals a contribution of β-arrestin to metabolic phenotypes

HS Kizilkaya, KV Sørensen, JS Madsen… - Nature …, 2024 - nature.com
Incretin-based therapies are highly successful in combatting obesity and type 2 diabetes.
Yet both activation and inhibition of the glucose-dependent insulinotropic polypeptide (GIP) …