Biliary Atresia study with OTHER, SNP/CNV Genotypes (NGS) data on dbGaP (182 participants)

phs003356 — ChiLDReN/BA: Genetic Studies of Biliary Atresia in the Childhood Liver    Disease Research Network

Biliary atresia (BA) is a progressive necroinflammatory process initially involving the extra-hepatic biliary tree. Little is known about the factors that cause BA or the factors that influence disease progression. A variety of genetic, autoimmune, and environmental influences have been hypothesized to be important. Most studies to date have focused on the neonate and young child with BA, yet the older surviving child with BA can provide important information about genetics as well as natural history.The <a href="https://childrennetwork.org/">Childhood Liver Disease Research Network</a> (ChiLDReN) conducts two longitudinal and observational studies that include BA patients: <a href="https://clinicaltrials.gov/search?term=NCT00345553">Biliary Atresia Study in Infants and Children</a> (BASIC) and <a href="https://clinicaltrials.gov/search?term=NCT00061828">A Prospective Database of Infants with Cholestasis</a> (PROBE). Using samples from participants in these two protocols, we have formed the largest known data set of biliary atresia patients in the world. ChiLDReN is performing a series of genomic analyses, with subsequent analyses being released as subsequent versions of this registration, phs003356. Version 1 concerns PKD1L1. About the PKD1L1 Analysis (phs003356.v1): While multiple factors have been implicated in the perinatal biliary injuries that characterize BA, a definitive etiology has not yet been established. This study is part of a larger project to characterize the largest cohort of pediatric BA patients through whole-exome sequencing (WES). In this analysis, we examine the WES of those with various laterality defects to determine whether genetic factors could be identified to explicate the etiopathogenesis of BA in biliary atresia splenic malformation (BASM) syndrome. We specifically explored variations in the <a href="https://www.ncbi.nlm.nih.gov/gene/168507">PKD1L1</a> gene, which recently has been identified in mouse models as playing a role in laterality.