Article
Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy.
Journal of the American Society of Nephrology : JASN - 1 Feb 2020
Guo Jing, Rackham Owen J L, Sandholm Niina, He Bing, Österholm Anne-May, Valo Erkka, Harjutsalo Valma, Forsblom Carol, Toppila Iiro, Parkkonen Maija, Li Qibin, Zhu Wenjuan, Harmston Nathan, Chothani Sonia, Öhman Miina K, Eng Eudora, Sun Yang, Petretto Enrico, Groop Per-Henrik, Tryggvason Karl
Abstract excerpt
BACKGROUND: Several genetic susceptibility loci associated with diabetic nephropathy have been documented, but no causative variants implying novel pathogenetic mechanisms have been elucidated. METHODS: We carried out whole-genome sequencing of a discovery cohort of Finnish siblings with type 1 diabetes who were discordant for the presence (case) or absence (control) of diabetic nephropathy. Controls had diabetes...
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