Clinical utility of polygenic risk scores for coronary artery disease

D Klarin, P Natarajan - Nature Reviews Cardiology, 2022 - nature.com
Over the past decade, substantial progress has been made in the discovery of alleles
contributing to the risk of coronary artery disease. In addition to providing causal insights into …

Role of uromodulin in salt-sensitive hypertension

S Mary, P Boder, S Padmanabhan, MW McBride… - …, 2022 - Am Heart Assoc
The exclusive expression of uromodulin in the kidneys has made it an intriguing protein in
kidney and cardiovascular research. Genome-wide association studies discovered variants …

[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 …

[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 …

GABA signaling enforces intestinal germinal center B cell differentiation

Y Liao, L Fan, P Bin, C Zhu, Q Chen… - Proceedings of the …, 2022 - National Acad Sciences
Recent compelling results indicate possible links between neurotransmitters, intestinal
mucosal IgA+ B cell responses, and immunoglobulin A nephropathy (IgAN) pathogenesis …

Meta-GWAS reveals novel genetic variants associated with urinary excretion of uromodulin

CB Joseph, M Mariniello, A Yoshifuji… - Journal of the …, 2022 - journals.lww.com
Background Uromodulin, the most abundant protein excreted in normal urine, plays major
roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of …

The interplay between uremic toxins and albumin, membrane transporters and drug interaction

RS Cunha, CAB Azevedo, CA Falconi, FF Ruiz… - Toxins, 2022 - mdpi.com
Uremic toxins are a heterogeneous group of molecules that accumulate in the body due to
the progression of chronic kidney disease (CKD). These toxins are associated with kidney …

A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia

CA Simeone, JL Wilkerson, AM Poss, JA Banks… - NPJ Genomic …, 2022 - nature.com
Adiponectin, encoded by ADIPOQ, is an insulin-sensitizing, anti-inflammatory, and
renoprotective adipokine that activates receptors with intrinsic ceramidase activity. We …

Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits

KH Yeh, LA Hsu, MS Teng, S Wu, HH Chou, YL Ko - Genes, 2022 - mdpi.com
Background: The common non-synonymous mutation of the glucokinase regulator (GCKR)
gene, namely rs1260326, is widely reported to have pleiotropic effects on cardio-metabolic …

Accelerated lysine metabolism conveys kidney protection in salt-sensitive hypertension

MM Rinschen, O Palygin, A El-Meanawy… - Nature …, 2022 - nature.com
Hypertension and kidney disease have been repeatedly associated with genomic variants
and alterations of lysine metabolism. Here, we combined stable isotope labeling with …