We aim to perform innovative multi-angle analyses using genome-wide microarray data to elucidate the complex genetic background of congenital anomalies of the kidney and urinary tract (CAKUT) without a monogenic cause by using genomewide-genotyping (SNP-array) data. We will conduct a genome-wide association study (GWAS) in 3,750 study participants with CAKUT and aim to use ≥40,000 ethnicity-matched healthy (Lifelines and Nijmegen Biomedical Study) controls to define the role of common variants in CAKUT. Furthermore our GWAS results in the CAKUT cohort will be used for gene-environment interaction studies and a meta-analysis by leveraging existing international collaborations.
ArtDECO - The common variant landscape of congenital anomalies of the kidney and urinary tract
Year of approval
2024
Institute
AUMC - Emma Children’s Hospital
Primary applicant
Westland, R.