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.