Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
Miguel VerbitskyPriya KrithivasanEkaterina BatourinaAtlas KhanSarah E GrahamMaddalena MarasàHyunwoo KimTze Y LimPatricia L WengElena Sánchez-RodríguezAdele MitrottiDina F AhramFrancesca ZanoniDavid A FaselRik WestlandMatthew G SampsonJun Y ZhangMonica BodriaByum Hee KilShirlee ShrilLoreto GesualdoFabio TorriFrancesco ScolariClaudia IzziJoanna A E van WijkMarijan SaragaDomenico SantoroGiovanni ContiDavid E BartonMark G DobsonPrem PuriSusan L FurthBradley A WaradyIsabella PisaniEnrico FiaccadoriLandino AllegriMaria Ludovica Degl'InnocentiGiorgio PiaggioShumyle AlamMaddalena GiganteGianluigi ZazaPasquale EspositoFangming LinAna Cristina Dos Santos LopesAndrzej BrodkiewiczDorota DrozdzKatarzyna ZachwiejaMonika MiklaszewskaMaria SzczepanskaPiotr AdamczykMarcin TkaczykDaria TomczykPrzemysław SikoraMalgorzata Mizerska-WasiakGrazyna KrzemienAgnieszka SzmigielskaMarcin ZaniewVladimir J LozanovskiZoran GucevIuliana Ionita-LazaIan B StanawayDavid R CrosslinCraig S WongFriedhelm HildebrandtJonathan BaraschEimear E KennyRuth J F LoosBrynn LevyGian Marco GhiggeriHakon HakonarsonAnna Latos-BieleńskaAnna Materna-KirylukJohn M DarlowVelibor TasicCristen WillerKrzysztof KirylukSimone Sanna-CherchiCathy L MendelsohnAli G GharaviPublished in: Journal of the American Society of Nephrology : JASN (2021)
These data demonstrate the genetic heterogeneity of VUR. Altogether, 6% of patients with VUR harbored a rare CNV or a common variant genotype conferring an OR >3. Identification of these genetic risk factors has multiple implications for clinical care and for analysis of outcomes in VUR.