Conclusion
We detected 42 novel potential pathogenic mutations in 44 altogether ABC
family genes. Among them, seven loci were identified in ABCB4 ,ABCB11 and ABCC2 , and the remaining 34 loci were in other
genes. We performed validation and bioinformatics analysis on some of
these novel pathogenic sites. The results showed that most loci were
conservative. Moreover, we found the detection of genetic variants that
are significantly associated with six biochemical index, including TBA,
ALT, AST, DBIL, CHOL and TG (P < 0.05). Nevertheless,
their functional validation needs to be further investigated. Our
findings provide new valuable insights into the genetic basis of ICP
disease and suggest potential candidate variant for clinical diagnose.