Nantes Université, Centrale Nantes, CHU Nantes, Inserm, Centre de Recherche Translationnelle en Transplantation et Immunologie, UMR 1064, F-44000, Nantes, France.
CHU Nantes, Nantes Université, Service de Néphrologie-Immunologie Clinique, ITUN, F-44000, Nantes, France.
Eur J Hum Genet. 2023 Nov;31(11):1291-1299. doi: 10.1038/s41431-023-01294-z. Epub 2023 Feb 3.
KiT-GENIE is a monocentric DNA biobank set up to consolidate the very rich and homogeneous DIVAT French cohort of kidney donors and recipients (D/R) in order to explore the molecular factors involved in kidney transplantation outcomes. We collected DNA samples for kidney transplantations performed in Nantes, and we leveraged GWAS genotyping data for securing high-quality genetic data with deep SNP and HLA annotations through imputations and for inferring D/R genetic ancestry. Overall, the biobank included 4217 individuals (n = 1945 D + 2,272 R, including 1969 D/R pairs), 7.4 M SNPs and over 200 clinical variables. KiT-GENIE represents an accurate snapshot of kidney transplantation clinical practice in Nantes between 2002 and 2018, with an enrichment in living kidney donors (17%) and recipients with focal segmental glomerulosclerosis (4%). Recipients were predominantly male (63%), of European ancestry (93%), with a mean age of 51yo and 86% experienced their first graft over the study period. D/R pairs were 93% from European ancestry, and 95% pairs exhibited at least one HLA allelic mismatch. The mean follow-up time was 6.7 years with a hindsight up to 25 years. Recipients experienced biopsy-proven rejection and graft loss for 16.6% and 21.3%, respectively. KiT-GENIE constitutes one of the largest kidney transplantation genetic cohorts worldwide to date. It includes homogeneous high-quality clinical and genetic data for donors and recipients, hence offering a unique opportunity to investigate immunogenetic and genetic factors, as well as donor-recipient interactions and mismatches involved in rejection, graft survival, primary disease recurrence and other comorbidities.
KiT-GENIE 是一个单中心 DNA 生物库，旨在整合丰富而同质的法国 DIVAT 肾供体和受者队列（D/R），以探索与肾移植结果相关的分子因素。我们收集了在南特进行的肾移植的 DNA 样本，并利用 GWAS 基因分型数据，通过 imputation 确保高质量的遗传数据，具有深 SNP 和 HLA 注释，并推断 D/R 的遗传起源。总体而言，该生物库包括 4217 个人（n=1945 D+2272 R，包括 1969 对 D/R），740 万 SNPs 和 200 多个临床变量。KiT-GENIE 代表了 2002 年至 2018 年南特肾移植临床实践的准确写照，其中富含活体供体（17%）和局灶节段性肾小球硬化（4%）的受者。受者主要为男性（63%），欧洲血统（93%），平均年龄为 51 岁，86%在研究期间接受了首次移植物。D/R 对 93%来自欧洲血统，95%的对显示至少有一个 HLA 等位基因不匹配。平均随访时间为 6.7 年，回顾时间最长可达 25 年。受者分别经历了 16.6%和 21.3%的活检证实排斥和移植物丢失。KiT-GENIE 是迄今为止全球最大的肾移植遗传队列之一。它包括供体和受者同质的高质量临床和遗传数据，因此提供了一个独特的机会来研究免疫遗传和遗传因素，以及排斥、移植物存活、原发性疾病复发和其他合并症中涉及的供体-受者相互作用和不匹配。
