Department of Medical Genetics, Sechenov University, Moscow, Russia.
Research Group for the Development of New Diagnostics Methods based on the Next Generation Sequencing Technologies, Federal Budget Institution of Science "Central Research Institute of Epidemiology" of the Federal Service on Customers' Rights Protection and Human Well-Being Surveillance, Moscow, Russia.
Urologia. 2020 May;87(2):57-64. doi: 10.1177/0391560319898375. Epub 2020 Feb 10.
The article summarizes the findings of Russian and international studies of the genetic aspects of polygenic urolithiasis associated with impairment of calcium metabolism. The article analyzes the genetic risk factors of polygenic nephrolithiasis that show significant association with the disease in case-control studies and Genome-Wide Association Studies (16 genes). We described the gene functions involved in concrement formation in polygenic nephrolithiasis. The modern molecular and genetic technologies (DNA microarray, high-throughput DNA sequencing, etc.) enable identification of the genetic predisposition to a specific disease, realization of the individualized treatment of the patient, and carrying out timely preventive measures among the proband's relatives.
本文总结了俄罗斯和国际上对与钙代谢紊乱相关的多基因尿石症的遗传方面的研究结果。本文分析了在病例对照研究和全基因组关联研究（16 个基因）中与多基因肾结石病有显著关联的多基因肾结石病的遗传风险因素。我们描述了参与多基因肾结石形成的基因功能。现代分子和遗传技术（DNA 微阵列、高通量 DNA 测序等）可用于鉴定特定疾病的遗传易感性，实现对患者的个体化治疗，并对先证者亲属进行及时的预防措施。
