Biochemical and clinical features of ICP cases with variants
Descriptive statistics of 26 clinical data for ICP patients with 42 new mutations are shown in Table S2. For all the clinical data, the level of ALT, AST, TBA, DBIL, CHOL and TG of 151 patients with ICP disease were higher than reference level. Notably, the average value of ABC novel mutations individuals had a fourfold higher TBA and a twofold higher ALT, AST, TG than the reference value, which confirms that the ICP disease presents with abnormal liver functions and elevated bile acids associated with the abnormal lipid metabolism.
Additionally, we found that six ICP patients contained both two mutations exhibited higher TBA, AST, DBIL, CHOL, TG and HDL than 31 patients with one mutation, 113 no mutation in ICP samples and local controls in 414 healthy population (Figure 3). In particular, TBA, as a clinical characteristic of ICP, the trend of the average value of which measured in ICP with mutations of ABC transporters’ genes and healthy local controls were ranked: ICP with two mutations > ICP with one mutation > ICP with no mutation > healthy controls.