Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy.

Jing Guo Owen J L Rackham Erkka Valo Bing HeAnne-May ÖsterholmErkka Valo Joanne B ColeCarol ForsblomIiro ToppilaMaija ParkkonenQibin LiWenjuan ZhuNathan HarmstonSonia ChothaniMiina K ÖhmanEudora EngYang SunEnrico PetrettoPer-Henrik GroopKarl Tryggvason

Published in: Journal of the American Society of Nephrology : JASN (2020)

Our comprehensive analysis of a diabetic nephropathy cohort of siblings with type 1 diabetes who were discordant for kidney disease points to variants and genes that are potentially causative or protective for diabetic nephropathy. This includes variants in two isoforms of the protein kinase C family not previously linked to diabetic nephropathy, adding support to previous hypotheses that the protein kinase C family members play a role in diabetic nephropathy and might be attractive therapeutic targets.

Keyphrases

diabetic nephropathy
protein kinase
copy number
type diabetes
intellectual disability
genome wide
circulating tumor
autism spectrum disorder
dna methylation
transcription factor
nucleic acid