Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function

N Aung, JD Vargas, C Yang, K Fung, MM Sanghvi… - Nature …, 2022 - nature.com
Right ventricular (RV) structure and function influence the morbidity and mortality from
coronary artery disease (CAD), dilated cardiomyopathy (DCM), pulmonary hypertension and …

Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology

VL Chen, X Du, Y Chen, A Kuppa… - Nature …, 2021 - nature.com
Serum liver enzyme concentrations are the most frequently-used laboratory markers of liver
disease, a major cause of mortality. We conduct a meta-analysis of genome-wide …

Population-specific causal disease effect sizes in functionally important regions impacted by selection

H Shi, S Gazal, M Kanai, EM Koch, AP Schoech… - Nature …, 2021 - nature.com
Many diseases exhibit population-specific causal effect sizes with trans-ethnic genetic
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …

The interplay between host genetics and the gut microbiome reveals common and distinct microbiome features for complex human diseases

F Xu, Y Fu, T Sun, Z Jiang, Z Miao, M Shuai, W Gou… - Microbiome, 2020 - Springer
Background Interest in the interplay between host genetics and the gut microbiome in
complex human diseases is increasing, with prior evidence mainly being derived from …

[HTML][HTML] Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference

A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk… - Kidney international, 2022 - Elsevier
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

Single-cell chromatin accessibility identifies pancreatic islet cell type–and state-specific regulatory programs of diabetes risk

J Chiou, C Zeng, Z Cheng, JY Han, M Schlichting… - Nature …, 2021 - nature.com
Single-nucleus assay for transposase-accessible chromatin using sequencing (snATAC-
seq) creates new opportunities to dissect cell type–specific mechanisms of complex …

A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

S Bell, AS Rigas, MK Magnusson… - Communications …, 2021 - nature.com
Iron is essential for many biological functions and iron deficiency and overload have major
health implications. We performed a meta-analysis of three genome-wide association …

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

CA Emdin, ME Haas, AV Khera, K Aragam… - PLoS …, 2020 - journals.plos.org
Analyzing 12,361 all-cause cirrhosis cases and 790,095 controls from eight cohorts, we
identify a common missense variant in the Mitochondrial Amidoxime Reducing Component …

Mendelian randomization analysis of 37 clinical factors and coronary artery disease in East Asian and European populations

K Wang, X Shi, Z Zhu, X Hao, L Chen, S Cheng… - Genome medicine, 2022 - Springer
Background Coronary artery disease (CAD) remains the leading cause of mortality
worldwide despite enormous efforts devoted to its prevention and treatment. While many …

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

J Choi, S Kim, J Kim, HY Son, SK Yoo, CU Kim… - Science …, 2023 - science.org
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …