Phelan Paul J, Conlon Peter J, Sparks Matthew A
Duke University Medical Center, Durham, NC, USA,
J Nephrol. 2014 Jun;27(3):247-56. doi: 10.1007/s40620-014-0053-4. Epub 2014 Feb 11.
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.
肾移植已成为肾脏替代的首选方法。然而,在过去十年中,同种异体肾移植的长期存活率并未改变。供体和受体的基因相互作用会影响肾移植结果,但我们对这些复杂相互作用的了解有限。直到最近,研究还局限于小型候选基因研究,通常仅限于同种异体肾移植受者。全基因组关联研究在移植领域的出现较为缓慢,但最近已有首个相关报道,本文将对此进行综述。涉及供体和受体对的规模更大的研究正在进行中。我们现在正进入表观遗传学和全基因组测序时代,有望更深入地了解基因对肾移植结果的影响。这可能会导致对移植后风险进行更准确的评估,有可能开发出风险预测模型,从而实现对肾移植护理更个性化的方法。在本文中,我们审视了该领域当前和新出现的文献,并讨论了当前研究和技术的局限性。