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Genetics of Diabetic Nephropathy: Are There Clues to the Understanding of Common Kidney Diseases?
B.R. Conway^a, A.P. Maxwell<sup>b

a</sup>Centre for Inflammation Research, University of Edinburgh, Edinburgh, and
^bNephrology Research Group, Queen's University of Belfast, Belfast, UK

Address of Corresponding Author

Nephron Clin Pract 2009;112:c213-c221 (DOI: 10.1159/000224787)

  Key Words

• Genetics
• Susceptibility gene
• Polymorphism
• Diabetic nephropathy
• Kidney disease

  Abstract

Diabetic nephropathy is the most common cause of end-stage renal disease in the Western world. There is evidence for a genetic susceptibility to diabetic kidney disease, but despite intensive research efforts it has proved difficult to identify the causative genes. Improvements in genotyping technologies have made genome-wide association studies (GWAS), employing hundreds of thousands of single nucleotide polymorphisms, affordable. Recently, such scans have advanced understanding of the genetics of common complex diseases, finding more than 100 novel susceptibility variants for diverse disorders including type 1 and 2 diabetes, coronary heart disease, Crohn's disease and rheumatoid arthritis. In this review, type 2 diabetes is highlighted to illustrate how genome-wide association studies have been used to study the genetics of complex multifactorial conditions; in addition, diabetic nephropathy will be used to demonstrate how similar scans could be employed to detect genetic factors predisposing to kidney disease. The identification of such variants would permit early identification of atrisk patients, enabling targeting of therapy and a move towards primary prevention. In addition, these powerful research methodologies may identify genes that were not previously known to predispose to nephropathy, thereby enhancing our understanding of the pathophysiology of renal disorders and potentially leading to novel therapeutic approaches.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Dr. Bryan Conway
Centre for Inflammation Research, Queen's Medical Research Institute
47 Little France Crescent, Room W2.05
Edinburgh EH16 4TJ (UK)
Tel. +44 131 242 6658, Fax +44 131 242 6578, E-Mail bryan.conway@ed.ac.uk

  Article Information

Published online: June 16, 2009
Number of Print Pages : 9
Number of Figures : 2, Number of Tables : 2, Number of References : 32