Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression
常见的非编码UMOD基因变异体通过增加尿调节蛋白表达诱导盐敏感高血压和肾脏损害
作者: Matteo TruduSylvie JanasChiara LanzaniHuguette DebaixCéline SchaefferMasami IkehataLorena CitterioSylvie DemaretzFrancesco TrevisaniGiuseppe RistagnoBob GlaudemansKamel LaghmaniGiacomo Dell'AntonioMurielle BochudMichel BurnierOlivier DevuystPierre-Yves MartinMarkus MohauptFred PaccaudAntoinette Pechère-BertschiBruno VogtDaniel AckermannGeorg EhretIdris GuessousBelen PonteMenno Pruijm
作者单位: 1Division of Genetics and Cell Biology, Dulbecco Telethon Institute, San Raffaele Scientific Institute, Milan, Italy
2Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland
3Division of Nephrology, Université catholique de Louvain, Medical School, Brussels, Belgium
4Division of Nephrology and Dialysis, San Raffaele Scientific Institute, Milan, Italy
5Renal Research Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy
6Fondazione D'Amico per la Ricerca sulle Malattie Renali, Milan, Italy
7INSERM UMRS 872, Paris, France
8School of Nephrology, University Vita-Salute San Raffaele, Milan, Italy
9Department of Cardiovascular Research, Istituto di Ricerce Farmacologiche Mario Negri, Milan, Italy
10Department of Pathology, San Raffaele Scientific Institute, Milan, Italy
11Institute of Anatomy, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland
12Institute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, Switzerland
13Department of Nephrology, Lausanne University Hospital, Lausanne, Switzerland
14Department of Nephrology, Geneva University Hospitals, Geneva, Switzerland
15Department of Nephrology, Hypertension and Clinical Pharmacology, Inselspital, University Hospital and University of Bern, Bern, Switzerland
16Hypertension Unit, Geneva University Hospitals, Geneva, Switzerland
17Department of Specialties of Internal Medicine, Cardiology, Geneva University Hospitals, Geneva, Switzerland
18Division of Primary Care Medicine, Department of Community Medicine and Primary Care and Emergency Medicine, Unit of Population Epidemiology, Geneva University Hospitals, Geneva, Switzerland
刊名: Nature Medicine, 2013, Vol.19 (12), pp.1655-1660
来源数据库: Springer Nature Journal
DOI: 10.1038/nm.3384
英文摘要: Variation in the promoter of the gene encoding uromodulin, the most abundant protein in urine, affects the individual risk of developing hypertension or chronic kidney disease. Luca Rampoldi, Olivier Devuyst and their colleagues show that the uromodulin risk alleles are associated with higher levels of uromodulin expression. This can promote hypertension, by stimulating sodium reabsorption by the loop of Henle in the kidney, and kidney damage in both mice and humans.(#br)Abstract(#br)Hypertension and chronic kidney disease (CKD) are complex traits representing major global health problems 1 , 2 . Multiple genome-wide association studies have identified common variants in the promoter of the UMOD gene 3 , 4 , 5 , 6 , 7 , 8 , 9 , which encodes uromodulin, the major...
全文获取路径: Springer Nature  (合作)
分享到:
来源刊物:
影响因子:22.864 (2012)

×