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 …

Precision medicine advances in idiopathic pulmonary fibrosis

T Karampitsakos, BM Juan-Guardela, A Tzouvelekis… - …, 2023 - thelancet.com
Idiopathic pulmonary fibrosis (IPF) is a highly heterogeneous, unpredictable and ultimately
lethal chronic lung disease. Over the last decade, two anti-fibrotic agents have been shown …

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 MRC IEU OpenGWAS data infrastructure

B Elsworth, M Lyon, T Alexander, Y Liu, P Matthews… - BioRxiv, 2020 - biorxiv.org
Data generated by genome-wide association studies (GWAS) are growing fast with the
linkage of biobank samples to health records, and expanding capture of high-dimensional …

Guidelines for performing Mendelian randomization investigations: update for summer 2023

S Burgess, GD Smith, NM Davies… - Wellcome open …, 2023 - pmc.ncbi.nlm.nih.gov
This paper provides guidelines for performing Mendelian randomization investigations. It is
aimed at practitioners seeking to undertake analyses and write up their findings, and at …

Non-linear Mendelian randomization analyses support a role for vitamin D deficiency in cardiovascular disease risk

A Zhou, JB Selvanayagam… - European Heart …, 2022 - academic.oup.com
Aims Low vitamin D status is associated with a higher risk for cardiovascular diseases
(CVDs). Although most existing linear Mendelian randomization (MR) studies reported a null …

A large-scale genome-wide association study meta-analysis of cannabis use disorder

EC Johnson, D Demontis, TE Thorgeirsson… - The Lancet …, 2020 - thelancet.com
Background Variation in liability to cannabis use disorder has a strong genetic component
(estimated twin and family heritability about 50–70%) and is associated with negative …

Genetic analyses identify widespread sex-differential participation bias

N Pirastu, M Cordioli, P Nandakumar, G Mignogna… - Nature Genetics, 2021 - nature.com
Genetic association results are often interpreted with the assumption that study participation
does not affect downstream analyses. Understanding the genetic basis of participation bias …

Vitamin D deficiency and C-reactive protein: a bidirectional Mendelian randomization study

A Zhou, E Hyppönen - International Journal of Epidemiology, 2023 - academic.oup.com
Background Low vitamin D status is often associated with systemic low-grade inflammation
as reflected by elevated C-reactive protein (CRP) levels. We investigated the causality and …

Genetically adjusted PSA levels for prostate cancer screening

L Kachuri, TJ Hoffmann, Y Jiang, SI Berndt… - Nature medicine, 2023 - nature.com
Prostate-specific antigen (PSA) screening for prostate cancer remains controversial because
it increases overdiagnosis and overtreatment of clinically insignificant tumors. Accounting for …