Sex differences in hypertrophic cardiomyopathy: interaction with genetics and environment
Abstract Purpose of Review We explore the sex-specific interaction of genetics and the
environment on the clinical course and outcomes of hypertrophic cardiomyopathy (HCM) …
environment on the clinical course and outcomes of hypertrophic cardiomyopathy (HCM) …
Polygenic risk scores for kidney function and their associations with circulating proteome, and incident kidney diseases
Background Genome-wide association studies (GWAS) have revealed numerous loci for
kidney function (eGFR). The relationship between polygenic predictors of eGFR, risk of …
kidney function (eGFR). The relationship between polygenic predictors of eGFR, risk of …
Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk: a Mendelian randomization study
Background C-type natriuretic peptide (CNP) is a known target for promoting growth and has
been implicated as a therapeutic opportunity for the prevention and treatment of …
been implicated as a therapeutic opportunity for the prevention and treatment of …
Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments
Over a decade of genome-wide association studies (GWAS) have led to the finding of
extreme polygenicity of complex traits. The phenomenon that “all genes affect every complex …
extreme polygenicity of complex traits. The phenomenon that “all genes affect every complex …
[HTML][HTML] Causal association between tea consumption and kidney function: a Mendelian randomization study
Background: The causal association between tea consumption and the risk of chronic
kidney disease (CKD) is few. This study was conducted to identify the potential causal …
kidney disease (CKD) is few. This study was conducted to identify the potential causal …
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
M Bedin, O Boyer, A Servais, Y Li… - The Journal of …, 2022 - Am Soc Clin Investig
BACKGROUND Proteinuria is considered an unfavorable clinical condition that accelerates
renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria …
renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria …
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity
More than 800 million people in the world suffer from chronic kidney disease (CKD).
Genome-wide association studies (GWAS) have identified hundreds of loci where genetic …
Genome-wide association studies (GWAS) have identified hundreds of loci where genetic …
Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control
J Tremblay, M Haloui, R Attaoua, R Tahir, C Hishmih… - Diabetologia, 2021 - Springer
Aims/hypothesis Type 2 diabetes increases the risk of cardiovascular and renal
complications, but early risk prediction could lead to timely intervention and better outcomes …
complications, but early risk prediction could lead to timely intervention and better outcomes …
The impact of cell type and context-dependent regulatory variants on human immune traits
Background The vast majority of trait-associated variants identified using genome-wide
association studies (GWAS) are noncoding, and therefore assumed to impact gene …
association studies (GWAS) are noncoding, and therefore assumed to impact gene …
[HTML][HTML] Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases
Y Li, Y Cheng, F Consolato, G Schiano, MR Chong… - JCI insight, 2022 - ncbi.nlm.nih.gov
Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney
disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and …
disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and …