Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.
Division of Nephrology and Dialysis, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria.
Am J Transplant. 2019 Aug;19(8):2262-2273. doi: 10.1111/ajt.15326. Epub 2019 Mar 28.
Genetic variation across the human leukocyte antigen loci is known to influence renal-transplant outcome. However, the impact of genetic variation beyond the human leukocyte antigen loci is less clear. We tested the association of common genetic variation and clinical characteristics, from both the donor and recipient, with posttransplant eGFR at different time-points, out to 5 years posttransplantation. We conducted GWAS meta-analyses across 10 844 donors and recipients from five European ancestry cohorts. We also analyzed the impact of polygenic risk scores (PRS), calculated using genetic variants associated with nontransplant eGFR, on posttransplant eGFR. PRS calculated using the recipient genotype alone, as well as combined donor and recipient genotypes were significantly associated with eGFR at 1-year posttransplant. Thirty-two percent of the variability in eGFR at 1-year posttransplant was explained by our model containing clinical covariates (including weights for death/graft-failure), principal components and combined donor-recipient PRS, with 0.3% contributed by the PRS. No individual genetic variant was significantly associated with eGFR posttransplant in the GWAS. This is the first study to examine PRS, composed of variants that impact kidney function in the general population, in a posttransplant context. Despite PRS being a significant predictor of eGFR posttransplant, the effect size of common genetic factors is limited compared to clinical variables.
人类白细胞抗原(HLA)基因座的遗传变异已知会影响肾移植的结果。然而,HLA 基因座以外的遗传变异的影响尚不明确。我们测试了供体和受者的常见遗传变异和临床特征与移植后不同时间点(移植后 5 年内)的 eGFR 的关联。我们对来自五个欧洲血统队列的 10844 名供体和受者进行了 GWAS 荟萃分析。我们还分析了使用与非移植 eGFR 相关的遗传变异计算的多基因风险评分(PRS)对移植后 eGFR 的影响。使用与 eGFR 相关的遗传变异计算的仅受者基因型的 PRS,以及供者和受者基因型的组合,与移植后 1 年的 eGFR 显著相关。我们的模型包含临床协变量(包括死亡/移植物失败的权重)、主成分和供者-受者组合 PRS,可解释 eGFR 在 1 年时 32%的变异性,PRS 占 0.3%。在 GWAS 中,没有单个遗传变异与移植后 eGFR 显著相关。这是首次在移植后背景下研究由影响一般人群肾功能的变异组成的 PRS。尽管 PRS 是移植后 eGFR 的重要预测因子,但与临床变量相比,常见遗传因素的效应大小有限。