title: How can genetics and epigenetics help the nephrologist improve the diagnosis and treatment of chronic kidney disease patients?
abstract: Discovery of novel improved tools for diagnosis, prevention and therapy of chronic kidney disease (CKD) is an important task for the nephrology community and it is likely that scientific breakthroughs, to a large extent, will be based on genomics. The rapid growth of the number of genome-wide association studies, major advances in DNA sequencing and omics profiling, and accelerating biomedical research efforts in this area have greatly expanded the knowledge base needed for applied genomics. However, translating and implementing genotype-phenotype data into gene-based medicine in CKD populations is still in an early phase and will require continuous research efforts with integrated approaches and intensified investigations that focus on the biological pathways, which causatively link a genetic variant with the disease phenotype. In this article, we review some current strategies to unravel these translational gaps as well as prospects for the implementation of genetic and epigenetic methods into novel clinical practice.
authors.affiliation: Divisions of Renal Medicine and Baxter Novum, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Witasp
authors.forename: Tomas J
authors.initials: TJ
authors.lastname: Ekström
authors.forename: Martin
authors.initials: M
authors.lastname: Schalling
authors.forename: Bengt
authors.initials: B
authors.lastname: Lindholm
authors.forename: Peter
authors.initials: P
authors.lastname: Stenvinkel
authors.forename: Louise
authors.initials: L
authors.lastname: Nordfors
mesh_terms: D035843:Biomedical Research; D057890:Epigenomics / Q000379:methods*; D055106:Genome-Wide Association Study; D023281:Genomics / Q000379:methods*; D006801:Humans; D009398:Nephrology; D010641:Phenotype; D010819:Physician's Role; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*
keywords: GWAS; chronic kidney disease; clinical utilization; epigenetics; genetics