ID

45212

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Principal Investigator: Joel Hirschhorn, Broad Institute and Children's Hospital Boston, Boston, MA, USA MeSH: Diabetic Nephropathy,Kidney Failure, Chronic,Albuminuria,Diabetes Mellitus, Type 1,Diabetes Complications https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000389 Diabetic kidney disease, or diabetic nephropathy (DN), is one of the leading causes of end-stage renal disease in the United States and worldwide. DN is a common complication of long-standing type 1 and type 2 diabetes. The clinical course is characterized by development of proteinuria and gradual loss of kidney function. Although existing treatments that decrease proteinuria have been shown to moderately abate progression of diabetic kidney disease, many affected patients, who do not die from cardiovascular disease, go on to develop terminal renal failure, necessitating costly renal replacement therapies, such as dialysis and renal transplantation. Type 1 diabetes (T1D) can have its onset in childhood and affected individuals often develop end-stage renal disease in early adulthood, leading to further loss of quality of life. The genetic basis of the disease is not well understood. The GENIE (*GE*netics of *N*ephropathy an *I*nternational *E*ffort) consortium was initiated to perform the most comprehensive and well powered DN susceptibility genome wide association study (GWAS) analysis to date, using the largest collection of type 1 diabetics with and without kidney disease across four study cohorts. The UK-ROI samples were genotyped as part of this project. *UK-ROI Sample Description* The UK-ROI collection consists of samples derived from the Republic of Ireland (Dr. Catherine Godson, PI, at University College, Dublin, Ireland) and the United Kingdom (Warren 3 and Genetics of Kidneys in Diabetes UK, *UK GoKinD*, Dr. Alexander P. Maxwell, PI, at Queen's University of Belfast, UK). All study subjects met the inclusion criteria: white individuals with T1D, diagnosed before 31 years of age, whose parents and grandparents were born in the British Isles.

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dbGaP study = phs000389

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Versions (2)

1. 8/2/22 8/2/22 - Simon Heim
2. 10/12/22 10/12/22 - Adrian Schulz

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Joel Hirschhorn, Broad Institute and Children's Hospital Boston, Boston, MA, USA

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October 12, 2022

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