Translating associations between common kidney diseases and genetic variation into the clinic

Abstract

Studies of the genetics of common diseases have revealed multiple risk alleles associated with end-stage renal disease, albuminuria, serum creatinine, diabetes, coronary heart disease, and increased triglyceride levels. These associations have prompted further basic science research, which has led to the discovery of novel pathways and a better understanding of the pathophysiology of common diseases. Currently, the ability to translate these discoveries into clinical practice is limited by the small effect size of these risk alleles and a lack of studies showing meaningful impact of genetic variation on risk assessment and clinical outcomes. Advances in genetic testing will continue to yield highly significant associations but translation into clinical practice will require effective collaboration between physicians and basic and social scientists. Rigorous clinical trials eventually will reveal which combination of genetic tests improves risk stratification and identifies individuals most likely to benefit from specific prevention strategies and therapies.

Figure 1

Basic and clinical research initiated as a result of identification of a risk allele associated with a common disease