Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Division of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Recanati Miller Transplant Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Kidney Int. 2020 Sep;98(3):758-768. doi: 10.1016/j.kint.2020.04.039. Epub 2020 May 23.
Donor-recipient (D-R) differences at human leukocyte antigen (HLA) loci are currently incorporated into organ sharing, allocation and immunosuppression decisions. However, while acute rejection episodes have substantially diminished, progressive histologic damage occurs in allografts and improved long-term survival remains an unrealized goal among kidney recipients. Here we tested the hypothesis that non-HLA dependent, genome-wide D-R genetic differences could contribute to unchecked alloimmunity with histologic and functional consequences, culminating in long-term allograft failure. Genome-wide single nucleotide polymorphism (SNP) array data, excluding the HLA region, was utilized from 385 transplants to study the role of D-R differences upon serial histology and allograft survival. ADMIXTURE analysis was performed to quantitatively estimate ancestry in each D-R pair and PLINK was used to estimate the proportion of genome-shared identity-by-descent (pIBD) between D-R pairs. Subsequently, quantitative measures of recipient ancestry based on non-HLA SNPs was associated with death-censored allograft survival in adjusted Cox models. In D-R pairs of similar ancestry, pIBD was significantly associated with allograft survival independent of HLA mismatches in 224 transplants. Surprisingly, pIBD and recipient ancestry were not associated with clinical or subclinical rejection at any time post-transplant. Significantly, in multivariable analysis, pIBD inversely correlated with vascular intimal fibrosis in 160 biopsies obtained less than one year which in turn was significantly associated with allograft survival. Thus, our novel data show that non-HLA D-R differences associate with early vascular intimal fibrosis and allograft survival.
供体-受者(D-R)在人类白细胞抗原(HLA)基因座上的差异目前已被纳入器官共享、分配和免疫抑制决策中。然而,尽管急性排斥反应明显减少,但同种异体移植物仍会发生进行性组织学损伤,而改善长期存活率仍然是肾移植受者未实现的目标。在这里,我们检验了一个假设,即非 HLA 依赖的、全基因组的 D-R 遗传差异可能导致未受抑制的同种异体免疫,并产生组织学和功能后果,最终导致长期移植物衰竭。利用 385 例移植的全基因组单核苷酸多态性(SNP)阵列数据(不包括 HLA 区域),来研究 D-R 差异对连续组织学和移植物存活率的作用。ADMIXTURE 分析用于定量估计每个 D-R 对的祖先,PLINK 用于估计 D-R 对之间的基因组共享一致亲代(pIBD)比例。随后,基于非 HLA SNPs 的受者祖先的定量指标与调整后的 Cox 模型中的死亡相关的移植物存活率相关。在具有相似祖先的 D-R 对中,pIBD 与 HLA 错配无关,在 224 例移植中与移植物存活率显著相关。令人惊讶的是,pIBD 和受者祖先与移植后任何时间的临床或亚临床排斥均无关联。重要的是,在多变量分析中,pIBD 与 160 例移植后不到 1 年获得的血管内膜纤维化呈负相关,而血管内膜纤维化与移植物存活率显著相关。因此,我们的新数据表明,非 HLA D-R 差异与早期血管内膜纤维化和移植物存活率相关。