Study

Biomarkers in Transplant Recipients

Study ID Alternative Stable ID Type
phs000960 Case Set

Study Description

Biliary atresia causes jaundice and liver failure in newborn children. In this study, single nucleotide polymorphisms were characterized in children with biliary atresia and identified ARF6 as a susceptibility gene for this disease. Knockdown of this gene in zebrafish embryos impaired formation of bile ducts and excretion of bile from the zebrafish liver.

Subject enrollment: Children with biliary atresia were enrolled at Children's Hospital of Pittsburgh (CHP) after obtaining written consent from parents for the University of Pittsburgh IRB approved protocol number 0405628. At the Center for Applied Genomics (CAG), all subjects were enrolled after obtaining written consent from parents per Children's Hospital of Philadelphia IRB approval number 06-004886

Genotyping array: Genotyping of DNA obtained from blood was performed with the Infinium HumanHap550K BeadChip (Illumina, San Diego, CA).

Statistical methods and software: SNP genotype frequencies were compared between cases and controls with a chi-square test statistic applied in ... (Show More)

Archive Link Archive Accession
dbGaP phs000960

Who archives the data?

There are no publications available