Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (
Journal of the American Society of Nephrology : JASN
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
J Am Soc Nephrol 2021 Oct; 32(10):2634-2651
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-
Mychaleckyj, Josyf C; Valo, Erkka; Ichimura, Takaharu; Ahluwalia, Tarunveer S; Dina, Christian; Miller, Rachel G; Shabalin, Ivan G; Gyorgy, Beata; Cao, JingJing; Onengut-Gumuscu, Suna; Satake, Eiichiro; Smiles, Adam M; Haukka, Jani K; Tregouet, David-Alexandre; Costacou, Tina; O'Neil, Kristina; Paterson, Andrew D; Forsblom, Carol; Keenan, Hillary A; Pezzolesi, Marcus G; Pragnell, Marlon; Galecki, Andrzej; Rich, Stephen S; Sandholm, Niina; Klein, Ronald; Klein, Barbara E; Susztak, Katalin; Orchard, Trevor J; Korstanje, Ron; King, George L; Hadjadj, Samy; Rossing, Peter; Bonventre, Joseph V; Groop, Per-Henrik; Warram, James H; and Krolewski, Andrzej S, "Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (" (2021). Faculty Research 2021. 255.