Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (
Document Type
Article
Publication Date
10-1-2021
Publication Title
Journal of the American Society of Nephrology : JASN
Keywords
JMG, 17-Hydroxysteroid Dehydrogenases, Adult, Animals, Case-Control Studies, Diabetes Mellitus, Type 1, Diabetic Nephropathies, Disease Progression, Exome, Female, Gene Expression, Genetic Variation, Humans, Kidney Failure, Chronic, Kidney Tubules, Proximal, Male, Mice, Middle Aged, Protein Structural Elements, Reperfusion Injury, Retrospective Studies, Survival Rate
JAX Source
J Am Soc Nephrol 2021 Oct; 32(10):2634-2651
Volume
32
Issue
10
First Page
2634
Last Page
2651
ISSN
1533-3450
PMID
34261756
DOI
https://doi.org/10.1681/asn.2020101457
Abstract
BACKGROUND: Rare variants in gene coding regions likely have a greater impact on disease-related phenotypes than common variants through disruption of their encoded protein. We searched for rare variants associated with onset of ESKD in individuals with type 1 diabetes at advanced kidney disease stage.
METHODS: Gene-based exome array analyses of 15,449 genes in five large incidence cohorts of individuals with type 1 diabetes and proteinuria were analyzed for survival time to ESKD, testing the top gene in a sixth cohort (
RESULTS: Protein coding variants in the hydroxysteroid 17-
CONCLUSIONS:
Recommended Citation
Mychaleckyj J,
Valo E,
Ichimura T,
Ahluwalia T,
Dina C,
Miller R,
Shabalin I,
Gyorgy B,
Cao J,
Onengut-Gumuscu S,
Satake E,
Smiles A,
Haukka J,
Tregouet D,
Costacou T,
O'Neil K,
Paterson A,
Forsblom C,
Keenan H,
Pezzolesi M,
Pragnell M,
Galecki A,
Rich S,
Sandholm N,
Klein R,
Klein B,
Susztak K,
Orchard T,
Korstanje R,
King G,
Hadjadj S,
Rossing P,
Bonventre J,
Groop P,
Warram J,
Krolewski A.
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 ( J Am Soc Nephrol 2021 Oct; 32(10):2634-2651