NOD2 Polymorphisms and Their Impact on Haematopoietic Stem Cell Transplant Outcome.

Bone Marrow Research Pub Date : 2012-01-01 Epub Date: 2012-10-18 DOI:10.1155/2012/180391
Neema P Mayor, Bronwen E Shaw, J Alejandro Madrigal, Steven G E Marsh
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引用次数: 10

Abstract

Haematopoietic stem cell transplantation (HSCT) is a valuable tool in the treatment of many haematological disorders. Advances in understanding HLA matching have improved prognoses. However, many recipients of well-matched HSCT develop posttransplant complications, and survival is far from absolute. The pursuit of novel genetic factors that may impact on HSCT outcome has resulted in the publication of many articles on a multitude of genes. Three NOD2 polymorphisms, identified as disease-associated variants in Crohn's disease, have recently been suggested as important candidate gene markers in the outcome of HSCT. It was originally postulated that as the clinical manifestation of inflammatory responses characteristic of several post-transplant complications was of notable similarity to those seen in Crohn's disease, it was possible that they shared a common cause. Since the publication of this first paper, numerous studies have attempted to replicate the results in different transplant settings. The data has varied considerably between studies, and as yet no consensus on the impact of NOD2 SNPs on HSCT outcome has been achieved. Here, we will review the existing literature, summarise current theories as to why the data differs, and suggest possible mechanisms by which the SNPs affect HSCT outcome.

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NOD2多态性及其对造血干细胞移植结果的影响
造血干细胞移植(HSCT)是治疗许多血液系统疾病的宝贵工具。了解HLA匹配的进展改善了预后。然而,许多匹配良好的HSCT受者会出现移植后并发症,生存率远不是绝对的。对可能影响造血干细胞移植结果的新遗传因素的追求已经导致了许多关于多种基因的文章的发表。三种NOD2多态性,被确定为克罗恩病的疾病相关变异,最近被认为是HSCT结果的重要候选基因标记。最初的假设是,由于几种移植后并发症的炎症反应的临床表现与克罗恩病的炎症反应明显相似,因此它们可能有共同的病因。自第一篇论文发表以来,许多研究试图在不同的移植环境中复制结果。不同研究的数据差异很大,目前还没有就NOD2 snp对HSCT结果的影响达成共识。在这里,我们将回顾现有的文献,总结当前的理论,为什么数据不同,并提出snp影响HSCT结果的可能机制。
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