| HRA000375
(Controlled Access)
|
We aimed to reveal genes that involved in the pathogenesis process of BA using 1,227 samples from 409 family trios with biliary atresia. Our study successfully identified 50 de novo single nucleotide variants (SNVs) or insertions and deletions (indels), 104 compound heterozygous mutated, 3 de novo copy number variants (CNVs) genes, and 6 transmission disequilibrium test (TDT) significant SNPs for the first time. We utilized target sequencing of independent population to validate significant roles of several genes in BA pathogenesis. A case-control study was performed using RNA sequencing (RNA-seq) and identified multiple differentially expressed genes (DEGs), and found that 9 de novo, 25 compound heterozygous mutated and 1 TDT significant gene were differentially expressed. We also discovered that cell adhesion and immune related pathways were highly enriched in both mutated genes of WGS and DEGs of RNA-seq. |
