Article
Rare mutations associating with serum creatinine and chronic kidney disease.
Human molecular genetics - 20 Dec 2014
Sveinbjornsson Gardar, Mikaelsdottir Evgenia, Palsson Runolfur, Indridason Olafur S, Holm Hilma, Jonasdottir Aslaug, Helgason Agnar, Sigurdsson Snaevar, Jonasdottir Adalbjorg, Sigurdsson Asgeir, Eyjolfsson Gudmundur Ingi, Sigurdardottir Olof, Magnusson Olafur Th, Kong Augustine, Masson Gisli, Sulem Patrick, Olafsson Isleifur, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
Chronic kidney disease (CKD) is a complex disorder with a strong genetic component. A number of common sequence variants have been found to associate with serum creatinine (SCr), estimated glomerular filtration rate (eGFR) and/or CKD. We imputed 24 million single-nucleotide polymorphisms and insertions/deletions identified by whole-genome sequencing of 2230 Icelanders into 81 656 chip-typed individuals and 112...
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