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 in the era of artificial intelligence: implications in chronic disease management

M Subramanian, A Wojtusciszyn, L Favre… - Journal of translational …, 2020 - Springer
Aberrant metabolism is the root cause of several serious health issues, creating a huge
burden to health and leading to diminished life expectancy. A dysregulated metabolism …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

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 …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

K Ishigaki, S Sakaue, C Terao, Y Luo, K Sonehara… - Nature …, 2022 - nature.com
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …

Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome

X Liu, X Tong, Y Zou, X Lin, H Zhao, L Tian, Z Jie… - Nature …, 2022 - nature.com
The gut microbiome has been implicated in a variety of physiological states, but controversy
over causality remains unresolved. Here, we performed bidirectional Mendelian …

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature genetics, 2023 - nature.com
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …

Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements

T Amariuta, K Ishigaki, H Sugishita, T Ohta, M Koido… - Nature …, 2020 - nature.com
Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric
genetic studies and limited knowledge of shared causal variants. Leveraging regulatory …

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

KG Aragam, T Jiang, A Goel, S Kanoni, BN Wolford… - Nature …, 2022 - nature.com
The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …