Kidney Disease Section, NIDDK, NIH, Bethesda, Maryland, USA.
Curr Opin Nephrol Hypertens. 2018 May;27(3):153-158. doi: 10.1097/MNH.0000000000000399.
To review publications relating to apolipoprotein L1 (APOL1) renal risk variants published 2017.
The study of APOL1 variants continues to be highly active; 24 articles published in 2017 were selected to highlight. These include clinical studies of kidney disease, kidney transplantation, hypertension, cardiovascular disease, and genetic diversity. Laboratory studies included APOL1 association with vesicle-associated membrane soluble N-ethylmaleimide-sensitive factor activating protein receptor protein and with soluble urokinase-type plasminogen activator receptor, mitochondrial dysfunction, endolysosomal dysfunction, and inflammasome activation.
Our understanding of the role of APOL1 genetic variants and the mechanisms for renal toxicity continues to deepen. It is not yet clear which pathways are most relevant to human disease, and so, the most relevant drug targets remain to be defined.
回顾 2017 年发表的与载脂蛋白 L1（APOL1）肾风险变异相关的文献。
APOL1 变异的研究仍然非常活跃；选择了 2017 年发表的 24 篇文章进行重点介绍。这些研究包括肾脏疾病、肾移植、高血压、心血管疾病和遗传多样性的临床研究。实验室研究包括 APOL1 与囊泡相关膜可溶性 N-乙基马来酰亚胺敏感因子激活蛋白受体蛋白和可溶性尿激酶型纤溶酶原激活物受体的关联，以及与线粒体功能障碍、内溶酶体功能障碍和炎性小体激活的关联。
我们对 APOL1 遗传变异体的作用及其肾毒性机制的理解还在不断深入。目前尚不清楚哪些途径与人类疾病最相关，因此，最相关的药物靶点仍有待确定。
