Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population

1 Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 2 Laboratory of Genomic Diversity, National Cancer Institute, and Basic Research Program, Science Applications International Corporation, National Cancer Institute, National Institutes of Health, Frederick, Maryland 3 Department of Hypertension and Nephrology, Marshfield Clinic, Marshfield, Wisconsin 4 Department of Medicine, Division of Nephrology, University of Texas Medical Branch, Galveston, Texas 5 Division of Nephrology, Albert Einstein College of Medicine, Bronx, New York 6 Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland 7 Department of Medicine, Rush University Medical Center, Chicago, Illinois 8 Department of Medicine, Division of Renal Diseases and Hypertension, George Washington University Medical Center, Washington, District of Columbia 9 Nephrology Section, Tulane University School of Medicine, New Orleans, Louisiana 10 Department of Pediatrics, Division of Nephrology, Schneider Children’s Hospital, New Hyde Park 11 Center for Urban Epidemiologic Studies, New York Academy of Medicine, New York, New York 12 Department of Medicine, West Virginia University, Morgantown, West Virginia 13 Renal, Electrolyte, and Hypertension Division, University of Pennsylvania, Philadelphia, Pennsylvania 14 Division of Nephrology and Hypertension, University Hospitals of Cleveland, Cleveland 15 Department of Medicine, Case Western Reserve University, Cleveland 16 Kidney Disease Research Center, Rammelkamp Center for Research and Education, MetroHealth System, Cleveland, Ohio 17 Kidney Disease Section, Kidney Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland Wilms’ tumor gene ( WT1 ) is important for nephrogenesis and gonadal growth. WT1 mutations cause Denys-Drash and Frasier syndromes, which are characterized by glomerular scarring. To test whether genetic variations in WT1 and WIT1 (gene immediately 5' to WT1 ) associate with focal segmental glomerulosclerosis (FSGS), patients with biopsy-proven idiopathic and HIV-1-associated FSGS were enrolled in a multicenter study. We genotyped SNP rs6508 located in WIT1 exon 1, three SNPs (rs2301250, rs2301252, rs2301254) in the promoter shared by WT1 and WIT1 , rs2234590 in exon 6, rs2234591 in intron 6, rs16754 in exon 7, and rs1799937 in intron 9 of WT1 . Cases (