Genetics of Chronic Kidney Disease

A Vivante - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …

APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease

S Datta, BM Antonio, NH Zahler… - The Journal of …, 2024 - Am Soc Clin Investig
Two coding variants of apolipoprotein L1 (APOL1), called G1 and G2, explain much of the
excess risk of kidney disease in African Americans. While various cytotoxic phenotypes have …

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Y Gupta, DJ Friedman, MT McNulty, A Khan… - Nature …, 2023 - nature.com
African Americans have a significantly higher risk of developing chronic kidney disease,
especially focal segmental glomerulosclerosis-, than European Americans. Two coding …

Tackling the Disproportionate Burden of Resistant Hypertension in US Black Adults

TK Reddy, SA Nasser, AV Pulapaka… - Current Cardiology …, 2024 - Springer
Abstract Purpose of Review Elevated blood pressure is the leading modifiable risk factor for
cardiovascular morbidity and mortality in the US. Older individuals, Black adults, and those …

What every clinician needs to know about chronic kidney disease: Detection, classification and epidemiology

NM Selby, MW Taal - Diabetes, Obesity and Metabolism, 2024 - Wiley Online Library
Chronic kidney disease (CKD) is a major healthcare challenge, affecting> 800 million
people worldwide. Implications for population health result from the strong associations of …

Protein-truncating variant in APOL3 increases chronic kidney disease risk in epistasis with APOL1 risk alleles

DY Zhang, MG Levin, JT Duda, LG Landry… - JCI insight, 2024 - insight.jci.org
BACKGROUND. Two coding alleles within the APOL1 gene, G1 and G2, found almost
exclusively in individuals genetically similar to West African populations, contribute …

APOL1 genotyping is incomplete without testing for the protective M1 modifier p. N264K variant

R Gbadegesin, E Martinelli, Y Gupta, DJ Friedman… - Glomerular …, 2024 - karger.com
Focal segmental glomerulosclerosis (FSGS), a pattern of injury seen in some patients with
nephrotic syndrome, is a leading cause of chronic kidney disease (CKD), especially in …

APOL1 nephropathy–a population genetics success story

O Tabachnikov, K Skorecki… - Current Opinion in …, 2024 - journals.lww.com
Notwithstanding remaining controversies and uncertainties, promising genomically precise
therapies targeted at APOL1 mRNA using antisense oligonucleotides (ASO), inhibitors of …

The Road to APOL1 Genetic Testing in Transplantation

RS Parekh - Clinical Journal of the American Society of …, 2024 - journals.lww.com
The discovery of the chromosome 22 locus associated with progressive ESKD and FSGS
has paved the road to our understanding of genetic factors contributing to kidney failure …

The Two Levels of Podocyte Dysfunctions Induced by Apolipoprotein L1 Risk Variants

E Pays - Kidney and Dialysis, 2024 - mdpi.com
Apolipoprotein L1 (APOL1) nephropathy results from several podocyte dysfunctions
involving morphological and motility changes, mitochondrial perturbations, inflammatory …