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Genetics of Congenital Anomalies of the Kidney and Urinary Tract

The Genetics of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) contributes data from individuals recruited at the Columbia University Medical Center, New York, USA; the Polish Registry of Congenital Malformations, Poland; the Universities of Parma, Bari, Brescia, and the Gaslini Institute, in Italy; the University of Skopje, Macedonia; and VUMC of Amsterdam, in the Netherlands. These individuals consented to share their data for the purpose of scientific discovery. The purpose of this study is to investigate the genetic architecture of CAKUT and its phenotypic associations.

Part of the data in this study was generated from 429 DNA samples from the Randomized Intervention for Children with Vesico-Ureteral Reflux (RIVUR) Study and 88 DNA samples from the Careful Urinary Tract Infection Evaluation (CUTIE) Study. The CUTIE study was ancillary to the RIVUR study. Genomic DNA (gDNA) samples from both the RIVUR and CUTIE studies were supplied by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Central Repositories. The RIVUR and CUTIE studies were conducted by investigators of the RIVUR and CUTIE studies and supported by the NIDDK. The Genetics of CAKUT study was not conducted in collaboration with investigators of the RIVUR or CUTIE studies and does not necessarily reflect the opinions or views of the RIVUR Study, the CUTIE Study, the NIDDK Central Repositories, or the NIDDK.

gDNA samples were genotyped on Illumina MEGA1 arrays (2126 samples, including 429 RIVUR samples) and MEGAeX arrays (85 CUTIE samples). Additionally, genotyping of 2,209 gDNA samples was derived from whole-exome sequencing (WES), 364 of which were also among the samples genotyped on MEGA1 arrays. No RIVUR or CUTIE genotypes were derived from WES. The sequenced samples correspond to 1,893 probands with kidney anomalies and 316 of their parents.