Lessons from CKD-Related Genetic Association Studies-Moving Forward

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):140-152. doi: 10.2215/CJN.09030817. Epub 2017 Dec 14.

Abstract

Over the past decade, genetic association studies have uncovered numerous determinants of kidney function in the general, diabetic, hypertensive, CKD, ESRD, and GN-based study populations (e.g., IgA nephropathy, membranous nephropathy, FSGS). These studies have led to numerous novel and unanticipated findings, which are helping improve our understanding of factors and pathways affecting both normal and pathologic kidney function. In this review, we report on major discoveries and advances resulting from this rapidly progressing research domain. We also predict some of the next steps the nephrology community should embrace to accelerate the identification of genetic and molecular processes leading to kidney dysfunction, pathophysiologically based disease subgroups, and specific therapeutic targets, as we attempt to transition toward a more precision-based medicine approach.

Keywords: Genetic Association Studies; Hypertension, Renal; Hypertensive Nephropathy; Kidney Failure, Chronic; Renal Insufficiency, Chronic; chronic kidney disease; diabetes mellitus; genetic renal disease; genome wide association; glomerulonephritis; nephritis; nephrology; precision medicine; systems biology.

Publication types

  • Review

MeSH terms

  • Animals
  • Clinical Decision-Making
  • Genetic Association Studies*
  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Humans
  • Kidney / physiopathology
  • Molecular Diagnostic Techniques
  • Phenotype
  • Precision Medicine
  • Predictive Value of Tests
  • Prognosis
  • Renal Insufficiency, Chronic / diagnosis
  • Renal Insufficiency, Chronic / genetics*
  • Renal Insufficiency, Chronic / physiopathology
  • Renal Insufficiency, Chronic / therapy

Substances

  • Genetic Markers