Genomics of hypertension: the road to precision medicine

S Padmanabhan, AF Dominiczak - Nature Reviews Cardiology, 2021 - nature.com
The known genetic architecture of blood pressure now comprises> 30 genes, with rare
variants resulting in monogenic forms of hypertension or hypotension and> 1,477 common …

Within family Mendelian randomization studies

NM Davies, LJ Howe, B Brumpton… - Human Molecular …, 2019 - academic.oup.com
Mendelian randomization (MR) is increasingly used to make causal inferences in a wide
range of fields, from drug development to etiologic studies. Causal inference in MR is …

Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

LJ Howe, MG Nivard, TT Morris, AF Hansen… - Nature …, 2022 - nature.com
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …

[PDF][PDF] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

S Burgess, CN Foley, E Allara, JR Staley… - Nature …, 2020 - nature.com
Mendelian randomization (MR) is an epidemiological technique that uses genetic variants to
distinguish correlation from causation in observational data. The reliability of a MR …

A population-based phenome-wide association study of cardiac and aortic structure and function

W Bai, H Suzuki, J Huang, C Francis, S Wang… - Nature medicine, 2020 - nature.com
Differences in cardiac and aortic structure and function are associated with cardiovascular
diseases and a wide range of other types of disease. Here we analyzed cardiovascular …

Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes

N Pervjakova, GH Moen, MC Borges… - Human molecular …, 2022 - academic.oup.com
Gestational diabetes mellitus (GDM) is associated with increased risk of pregnancy
complications and adverse perinatal outcomes. GDM often reoccurs and is associated with …

Mendel's laws, Mendelian randomization and causal inference in observational data: substantive and nomenclatural issues

G Davey Smith, MV Holmes, NM Davies… - European journal of …, 2020 - Springer
We respond to criticisms of Mendelian randomization (MR) by Mukamal, Stampfer and Rimm
(MSR). MSR consider that MR is receiving too much attention and should be renamed. We …

Childhood body size directly increases type 1 diabetes risk based on a lifecourse Mendelian randomization approach

TG Richardson, DJM Crouch, GM Power… - Nature …, 2022 - nature.com
The rising prevalence of childhood obesity has been postulated as an explanation for the
increasing rate of individuals diagnosed with type 1 diabetes (T1D). In this study, we use …

A comprehensive epigenome atlas reveals DNA methylation regulating skeletal muscle development

Y Yang, X Fan, J Yan, M Chen, M Zhu… - Nucleic acids …, 2021 - academic.oup.com
DNA methylation is important for the epigenetic regulation of gene expression and plays a
critical role in mammalian development. However, the dynamic regulation of genome-wide …