An official website of the United States government

This repository is under review for potential modification in compliance with Administration directives.

Publication Information

PubMed ID
Public Release Type
Journal
Publication Year
2021
Affiliation
Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia.; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.; Renal Division, Brigham and women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts.; Steno Diabetes Center Copenhagen, Copenhagen, Denmark.; Université de Nantes, CNRS INSERM, L'institut du thorax, Nantes, France.; Department of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania.; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia.; INSERM UMRS1166, Institute of CardioMetabolism and Nutrition, Sorbonne Université, Paris, France.; Genetics & Genome Biology Research Institute, SickKids Hospital, Toronto, Ontario, Canada.; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.; INSERM UMRS1166, Institute of CardioMetabolism and Nutrition, Sorbonne Université, Paris, France.; Department of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; Genetics & Genome Biology Research Institute, SickKids Hospital, Toronto, Ontario, Canada.; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; JDRF International, New York, New York.; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan.; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia.; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Department of Medicine and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania.; The Jackson Laboratory, Bar Harbor, Maine.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; INSERM CIC 1402 and U 1082, Poitiers, France.; Steno Diabetes Center Copenhagen, Copenhagen, Denmark.; Renal Division, Brigham and women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts.; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.; Research Division, Joslin Diabetes Center, Boston, Massachusetts.
Authors
Mychaleckyj Josyf C, Valo Erkka, Ichimura Takaharu, Ahluwalia Tarunveer S, Dina Christian, Miller Rachel G, Shabalin Ivan G, Gyorgy Beata, Cao JingJing, Onengut-Gumuscu Suna, Satake Eiichiro, Smiles Adam M, Haukka Jani K, Tregouet David-Alexandre, Costacou Tina, O'Neil Kristina, Paterson Andrew D, Forsblom Carol, Keenan Hillary A, Pezzolesi Marcus G, Pragnell Marlon, Galecki Andrzej, Rich Stephen S, Sandholm Niina, Klein Ronald, Klein Barbara E, Susztak Katalin, Orchard Trevor J, Korstanje Ron, King George L, Hadjadj Samy, Rossing Peter, Bonventre Joseph V, Groop Per-Henrik, Warram James H, Krolewski Andrzej S
Studies

Abstract

Rare variants in gene coding regions likely have a greater impact on disease-related phenotypes than common variants through disruption of their encoded protein. We searched for rare variants associated with onset of ESKD in individuals with type 1 diabetes at advanced kidney disease stage.