尿调节素及UMOD基因与慢性肾病的相关性研究进展

基础医学与临床 ›› 2020, Vol. 40 ›› Issue (4): 557-561.

尿调节素及UMOD基因与慢性肾病的相关性研究进展

尤瑞莲, 徐鲁斌, 陈丽萌^*

中国医学科学院北京协和医学院北京协和医院肾内科,北京 100730

收稿日期:2019-07-03 修回日期:2019-12-03 出版日期:2020-04-05 发布日期:2020-04-06
通讯作者: *chenlimeng@pumch.cn
基金资助:
国家重点研发计划“精准医学研究”项目(2016YFC0901500);首都临床特色应用研究(Z171100001017196);宁夏回族自治区重点研发计划(对外科技合作专项)东西部合作项目(2018YBZD0557);中国医学科学院医学与健康科技创新工程经费(2016-12M-2-004);北京协和医学院教学改革基金(2016zlgc013)

Advances in the correlation of uromodulin and UMOD gene with chronic kidney disease

YOU Rui-lian, XU Lu-bin, CHEN Li-meng^*

Department of Nephrology, Peking Union Medical College Hospital, CAMS&PUMC, Beijing 100730, China

Received:2019-07-03 Revised:2019-12-03 Online:2020-04-05 Published:2020-04-06
Contact: *chenlimeng@pumch.cn

摘要/Abstract

摘要： 尿调节素,又称Tamm-Horsfal蛋白,是由肾小管髓袢升支粗段的小管上皮细胞分泌、也是正常人尿液中含量最多的蛋白。研究发现尿调节素具有多种生物学功能,如调节水盐代谢、调节免疫、防止肾结石产生和防止尿路感染等。近期全基因组关联分析发现编码尿调节素的基因UMOD启动子区单核苷酸多态性与慢性肾病的进展及预后具有很高关联度,并进一步通过孟德尔随机化方法证实尿调节素与慢性肾脏病的因果关系。

关键词: 尿调节素, UMOD基因, 慢性肾病, 孟德尔随机化试验

Abstract: Uromodulin, also known as Tamm-Horsfal protein, is the most abundant protein in normal urine. It is exclusively secreted by renal tubular epithelial cells in thick ascending limb (TAL) of the Henle loop. Past studies showed that uromodu in had various biological functions, including regulating water and salt metabolism, immunomodulation, protection against renal calculus and urinary tract infection. UMOD is the gene encoding uromodulin. Recently, with the development of genome-wide association study (GWAS), it is found that the UMOD gene is significantly associated with the progression and prognosis of chronic kidney disease (CKD). Further studies using Mendelian randomization methods verified the causality between uromodulin and CKD.

Key words: uromodulin, UMOD, chronic kidney disease, mendelian randomization

中图分类号:

尤瑞莲, 徐鲁斌, 陈丽萌. 尿调节素及UMOD基因与慢性肾病的相关性研究进展[J]. 基础医学与临床, 2020, 40(4): 557-561.

YOU Rui-lian, XU Lu-bin, CHEN Li-meng. Advances in the correlation of uromodulin and UMOD gene with chronic kidney disease[J]. Basic & Clinical Medicine, 2020, 40(4): 557-561.

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