Title

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:

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