Tennessee Valley Health Systems, Nashville Veterans Affairs, Nashville, Tennessee, USA; Division of Nephrology and Hypertension, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA; Vanderbilt Center for Kidney Disease (VCKD) and Integrated Program for AKI Research (VIP-AKI), Nashville, Tennessee, USA.
Tennessee Valley Health Systems, Nashville Veterans Affairs, Nashville, Tennessee, USA; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Kidney Int. 2024 Aug;106(2):291-301. doi: 10.1016/j.kint.2024.04.019. Epub 2024 May 24.
Acute kidney injury (AKI) is a common and devastating complication of hospitalization. Here, we identified genetic loci associated with AKI in patients hospitalized between 2002-2019 in the Million Veteran Program and data from Vanderbilt University Medical Center's BioVU. AKI was defined as meeting a modified KDIGO Stage 1 or more for two or more consecutive days or kidney replacement therapy. Control individuals were required to have one or more qualifying hospitalizations without AKI and no evidence of AKI during any other observed hospitalizations. Genome-wide association studies (GWAS), stratified by race, adjusting for sex, age, baseline estimated glomerular filtration rate (eGFR), and the top ten principal components of ancestry were conducted. Results were meta-analyzed using fixed effects models. In total, there were 54,488 patients with AKI and 138,051 non-AKI individuals included in the study. Two novel loci reached genome-wide significance in the meta-analysis: rs11642015 near the FTO locus on chromosome 16 (obesity traits) (odds ratio 1.07 (95% confidence interval, 1.05-1.09)) and rs4859682 near the SHROOM3 locus on chromosome 4 (glomerular filtration barrier integrity) (odds ratio 0.95 (95% confidence interval, 0.93-0.96)). These loci colocalized with previous studies of kidney function, and genetic correlation indicated significant shared genetic architecture between AKI and eGFR. Notably, the association at the FTO locus was attenuated after adjustment for BMI and diabetes, suggesting that this association may be partially driven by obesity. Both FTO and the SHROOM3 loci showed nominal evidence of replication from diagnostic-code-based summary statistics from UK Biobank, FinnGen, and Biobank Japan. Thus, our large GWA meta-analysis found two loci significantly associated with AKI suggesting genetics may explain some risk for AKI.
急性肾损伤 (AKI) 是住院患者常见且严重的并发症。在这里,我们在 2002-2019 年期间在百万退伍军人计划和范德比尔特大学医学中心的 BioVU 数据中确定了与 AKI 相关的遗传基因座。AKI 的定义为满足 KDIGO 阶段 1 或更多 2 天或更长时间,或肾脏替代治疗。对照个体需要有一次或多次符合 AKI 条件的住院治疗,并且在任何其他观察到的住院期间没有 AKI 的证据。进行了全基因组关联研究 (GWAS),按种族分层,调整性别、年龄、基线估计肾小球滤过率 (eGFR) 和祖先的前 10 个主要成分。使用固定效应模型对结果进行荟萃分析。在这项研究中,共有 54488 名 AKI 患者和 138051 名非 AKI 个体。两个新的基因座在荟萃分析中达到了全基因组显著性:位于染色体 16 上的 FTO 基因座附近的 rs11642015(肥胖特征)(比值比 1.07(95%置信区间,1.05-1.09))和位于染色体 4 上的 SHROOM3 基因座附近的 rs4859682(肾小球滤过屏障完整性)(比值比 0.95(95%置信区间,0.93-0.96))。这些基因座与之前关于肾功能的研究相重合,遗传相关性表明 AKI 和 eGFR 之间存在显著的共同遗传结构。值得注意的是,在调整 BMI 和糖尿病后,FTO 基因座的关联减弱,表明这种关联可能部分是由肥胖引起的。FTO 和 SHROOM3 基因座都显示出来自英国生物银行、芬兰基因和日本生物银行的基于诊断代码的汇总统计数据的名义复制证据。因此,我们的大型 GWA 荟萃分析发现了两个与 AKI 显著相关的基因座,表明遗传可能解释了一些 AKI 的风险。