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肾移植中的全基因组关联研究:优势与局限

Genome-wide association studies in kidney transplantation: Advantages and constraints.

作者信息

Yang Jianxin, Claas Frans H J, Eikmans Michael

机构信息

Dept. of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands.

Dept. of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Transpl Immunol. 2018 Aug;49:1-4. doi: 10.1016/j.trim.2018.04.004. Epub 2018 Apr 25.

Abstract

Since the discovery of the human leukocyte antigen (HLA) system, the role of HLA molecules in the field of transplantation has been appreciated: better matching leads to better graft function. Since then, the association of other genetic polymorphisms with clinical outcome has been investigated in many studies. Genome-wide association studies (GWAS) represent a powerful tool to identify causal genetic variants, by simultaneously analyzing millions of single nucleotide polymorphisms scattered across the genome. GWAS in transplantation may indeed be useful to reveal novel markers that may potentially be involved in the mechanism of allograft rejection and graft failure. However, the relevance of GWAS for risk stratification or donor selection for an individual patient is limited as is already reflected by the fact that many parameters, significant in one study, cannot be confirmed in another one.

摘要

自人类白细胞抗原(HLA)系统被发现以来,HLA分子在移植领域的作用已得到认可:更好的配型会带来更好的移植物功能。从那时起,许多研究对其他基因多态性与临床结局的关联进行了调查。全基因组关联研究(GWAS)是一种强大的工具,通过同时分析遍布基因组的数百万个单核苷酸多态性来识别因果基因变异。移植领域的GWAS确实可能有助于揭示可能参与同种异体移植排斥和移植物失败机制的新标志物。然而,GWAS对个体患者进行风险分层或供体选择的相关性有限,这一点已从以下事实中得到体现:在一项研究中具有显著性的许多参数,在另一项研究中无法得到证实。

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