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.