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Exome Sequencing in Individuals with Isolated Biliary Atresia.
Ramakrishnan Rajagopalan1, Ellen A Tsai1,2,3, Christopher M Grochowski1,4
1Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Scientific Reports
|February 19, 2020
Summary
Genetic analysis of biliary atresia (BA) did not find simple genetic causes. However, de novo variants in STIP1 and REV1 suggest interactions between genetic susceptibility and environmental factors may contribute to this pediatric liver disease.
Area of Science:
- Genetics
- Pediatric Hepatology
- Molecular Biology
Background:
- Biliary atresia (BA) is a severe pediatric liver disease causing bile duct obstruction.
- The exact cause of isolated BA remains unknown, with suspected infectious, environmental, and genetic factors.
- No definitive causal genes have been identified for isolated BA in humans.
Purpose of the Study:
- To identify potentially deleterious protein-altering variants associated with isolated biliary atresia.
- To investigate the role of single gene defects in the etiology of isolated BA.
Main Methods:
- Exome sequencing was performed on 101 North American patients of European descent with isolated BA.
- Analysis included case-only, case-case control, and trio analyses (30 parent-child trios).
Main Results:
- No shared variants among multiple patients were found in the case-only analysis.
- Burden tests for rare variants did not yield significant results.
- Trio analysis identified 66 de novo variants in 66 genes, including potentially deleterious variants in STIP1 and REV1, which are linked to stress responses and DNA repair.
Conclusions:
- The study does not support a simple genetic model for the majority of isolated BA cases.
- De novo variants in STIP1 and REV1 suggest that interactions between genetic susceptibility and environmental exposures warrant further investigation in BA pathogenesis.
