association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by umod gene region sequencing协会估计肾小球滤过率和尿uromodulin浓度与umod确认的罕见变异基因测序.pdf

Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing ¨ 1,2. 3. 4 1 ´ 5 Anna Kottgen , Qiong Yang , Lawrence C. Shimmin , Adrienne Tin , Celine Schaeffer , 1,6 3 5 7 4 4 Josef Coresh , Xuan Liu , Luca Rampoldi , Shih-Jen Hwang , Eric Boerwinkle , James E. Hixson , W H Linda Kao1,6, Caroline S. Fox7,8* 1 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America, 2 Renal Division, Freiburg University Clinic, Freiburg, Germany, 3 Department of Biostatistics, Boston University School of Public Health, Boston, Massachussets, United States of America, 4 Human Genetics Center, Division of Epidemiology and Disease Control, UT-Houston School of Public Health, Houston, Texas, United States of America, 5 Dulbecco Telethon Institute and Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy, 6 Welch Center for Prevention, Epidemiology and Clinical Research, Johns Hopkins Medical Institutions, Baltimore, Maryland, United States of America, 7 NHLBI’s Framingham Heart Study and the Center for Population Studies, Framingham, Massachussets, United States of America, 8 Division of Endocrinology, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachussets, United States of America Abstract Background: Recent genome-wide association studies (GWAS) have identified common variants in the UMOD region associated with kidney function and disease in the general population. To identify novel