Kidney Diseases Branch, NIDDK, NIH, Bethesda.
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD.
Adv Anat Pathol. 2019 May;26(3):215-219. doi: 10.1097/PAP.0000000000000221.
Genetic variants in APOL1, encoding apolipoprotein L1, are major drivers of glomerular disease in peoples of sub-Saharan African descent. APOL1-associated primary glomerular diseases include focal segmental glomerulosclerosis, human immunodeficiency virus-associated nephropathies, and arterionephrosclerosis. Other conditions where APOL1 variants affect outcomes include membranous nephropathy, lupus nephritis, diabetic nephropathy, preeclampsia, and kidney transplant. In focal segmental glomerulosclerosis, APOL1 variants are associated with upregulation of RNA encoding chemokine C-X-C motif receptor 3 ligands and ubiquitin D; the significance of these findings remains unclear but may provide valuable insight into disease mechanisms.
APOL1 基因中的遗传变异，编码载脂蛋白 L1，是撒哈拉以南非洲裔人群肾小球疾病的主要驱动因素。APOL1 相关的原发性肾小球疾病包括局灶节段性肾小球硬化症、人类免疫缺陷病毒相关性肾病和血管性肾动脉硬化症。APOL1 变异影响结局的其他疾病包括膜性肾病、狼疮性肾炎、糖尿病肾病、子痫前期和肾移植。在局灶节段性肾小球硬化症中，APOL1 变异与趋化因子 C-X-C 基序受体 3 配体和泛素 D 的 RNA 上调有关；这些发现的意义尚不清楚，但可能为疾病机制提供有价值的见解。
