| 尿调节素及UMOD基因与慢性肾病的相关性研究进展 |
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| 引用本文： | 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. |
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| 作者姓名： | 尤瑞莲 徐鲁斌 陈丽萌 |
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| 作者单位： | 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;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;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 |
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| 基金项目： | 国家重点研发计划;教学改革项目;创新工程项目;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;首都临床特色应用研究项目 |
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| 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。
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| 关 键 词： | 尿调节素 UMOD基因 慢性肾病 孟德尔随机化试验 |
Advances in the correlation ofuromodulin and UMOD gene with chronic kidney disease |
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| YOU Rui-lian,XU Lu-bin,CHEN Li-meng.Advances in the correlation ofuromodulin and UMOD gene with chronic kidney disease[J].Basic Medical Sciences and Clinics,2020,40(4):557-561. |
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| Authors: | YOU Rui-lian XU Lu-bin CHEN Li-meng |
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| Institution: | (Department of Nephrology, Peking Union Medical College Hospital, CAMS&PUMC, Beijing 100730, China) |
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| 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. |
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| Keywords: | uromodulin UMOD chronic kidney disease mendelian randomization |
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