Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.
Maria Armila RuizXu ZhangM Adela MansillaRima S ZahrChristie P ThomasRichard J SmithVictor R GordeukSantosh L SarafPublished in: British journal of haematology (2024)
The pathophysiology and genetic risk for sickle cell disease (SCD)-related chronic kidney disease (CKD) are not well understood. In 70 adults with SCD-related CKD and without APOL1 inherited in a high-risk pattern, 24 (34%) had pathogenic variants in candidate genes using KidneySeq™. A moderate impact INF2 variant was observed in 20 (29%) patients and those with 3 versus 0-2 pathogenic or moderate impact glomerular genetic variants had higher albuminuria and lower estimated glomerular filtration rate (adjusted p ≤ 0.015). Using a panel of preselected genes implicated in kidney health, we observed several variants in people with sickle cell nephropathy.
Keyphrases
- chronic kidney disease
- end stage renal disease
- sickle cell disease
- copy number
- healthcare
- public health
- genome wide
- mental health
- peritoneal dialysis
- high intensity
- newly diagnosed
- ejection fraction
- health information
- prognostic factors
- dna methylation
- patient reported outcomes
- risk assessment
- climate change
- endothelial cells
- transcription factor
- bioinformatics analysis
- breast cancer risk