title: Genome-wide association studies of chronic kidney disease: what have we learned?
abstract: The past 3 years have witnessed a dramatic expansion in our knowledge of the genetic determinants of estimated glomerular filtration rate (eGFR) and chronic kidney disease (CKD). However, heritability estimates of eGFR indicate that we have only identified a small proportion of the total heritable contribution to the phenotypic variation. The majority of associations reported from genome-wide association studies identify genomic regions of interest and further work will be required to identify the causal variants responsible for a specific phenotype. Progress in this area is likely to stem from the identification of novel risk genotypes, which will offer insight into the pathogenesis of disease and potential novel therapeutic targets. Follow-up studies stimulated by findings from genome-wide association studies of kidney disease are already yielding promising results, such as the identification of an association between urinary uromodulin levels and incident CKD. Although this work is at an early stage, prospects for progress in our understanding of CKD and its treatment look more promising now than at any point in the past.
authors.affiliation: National Heart, Lung and Blood Institute's Framingham Heart Study and the Center for Population Studies, 73 Mount Wayte Avenue, Suite 2, Framingham, MA 01702, USA.
authors.forename: Conall M
authors.initials: CM
authors.lastname: O'Seaghdha
authors.forename: Caroline S
authors.initials: CS
authors.lastname: Fox
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics*; D011110:Polymorphism, Genetic