Article
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
Journal of the American Society of Nephrology : JASN - 1 Oct 2021
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, Krolewski Andrzej S
Abstract excerpt
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...
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