Journal of Nephrology

, Volume 27, Issue 3, pp 247–256 | Cite as

Genetic determinants of renal transplant outcome: where do we stand?

  • Paul J. Phelan
  • Peter J. Conlon
  • Matthew A. Sparks


Kidney transplantation has become the preferred method of renal replacement. However, the rate of long term allograft survival has not changed over the last decade. Donor and recipient genetic interplay influences kidney transplant outcome but our knowledge of these complex interactions is limited. Until recently, investigations have been limited to small candidate gene studies, usually restricted to allograft recipients. Genome-wide association studies have been slow to emerge in transplantation but the first has recently been reported and will be reviewed here. Much larger studies involving donor and recipients pairs are ongoing. We are now entering the era of epigenetics and whole genome sequencing which will hopefully provide a more in-depth knowledge of the genetic influences on renal transplant outcome. This may lead to a more accurate assessment of post-transplant risk, potentially allowing for the development of risk predication models leading to a more personalized approach to kidney transplant care. In this article, we examine the current and emerging literature in the field and discuss the limitations of current studies and technologies.


Acute rejection Genetics GWAS Kidney transplantation Outcome SNP 



We would like to thank Prof. Gerhard Opelz for permission to use Fig. 1 from the Collaborative Transplant Study.

Conflict of interest



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Copyright information

© Italian Society of Nephrology 2014

Authors and Affiliations

  • Paul J. Phelan
    • 1
  • Peter J. Conlon
    • 2
  • Matthew A. Sparks
    • 3
  1. 1.Duke University Medical CenterDurhamUSA
  2. 2.Department of NephrologyBeaumont HospitalDublinIreland
  3. 3.Department of Medicine, Division of NephrologyDuke University and Durham VA Medical CentersDurhamUSA

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