Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.
Diabetic kidney disease
Genetics
Targeted sequencing
Journal
American journal of nephrology
ISSN: 1421-9670
Titre abrégé: Am J Nephrol
Pays: Switzerland
ID NLM: 8109361
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
12
2020
accepted:
14
01
2021
pubmed:
29
3
2021
medline:
4
1
2022
entrez:
28
3
2021
Statut:
ppublish
Résumé
Diabetes is the most common cause of chronic kidney disease (CKD). For patients with diabetes and CKD, the underlying cause of their kidney disease is often assumed to be a consequence of their diabetes. Without histopathological confirmation, however, the underlying cause of their disease is unclear. Recent studies have shown that next-generation sequencing (NGS) provides a promising avenue toward uncovering and establishing precise genetic diagnoses in various forms of kidney disease. Here, we set out to investigate the genetic basis of disease in nondiabetic kidney disease (NDKD) and diabetic kidney disease (DKD) patients by performing targeted NGS using a custom panel comprising 345 kidney disease-related genes. Our analysis identified rare diagnostic variants based on ACMG-AMP guidelines that were consistent with the clinical diagnosis of 19% of the NDKD patients included in this study. Similarly, 22% of DKD patients were found to carry rare pathogenic/likely pathogenic variants in kidney disease-related genes included on our panel. Genetic variants suggestive of NDKD were detected in 3% of the diabetic patients included in this study. Our findings suggest that rare variants in kidney disease-related genes in a diabetic background may play a role in the pathogenesis of DKD and NDKD in patients with diabetes.
Identifiants
pubmed: 33774617
pii: 000514578
doi: 10.1159/000514578
pmc: PMC8653779
mid: NIHMS1760481
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
239-249Subventions
Organisme : NIDDK NIH HHS
ID : R25 DK109894
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK091317
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States
Informations de copyright
© 2021 S. Karger AG, Basel.
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