Genotype-phenotype landscape of Sodium taurocholate cotransporting polypeptide deficiency in Yunnan Province, China: A five-year retrospective, multi-ethnic cohort study

Figure 1 Demographic, genotypic, and geographic characteristics of the sodium taurocholate cotransporting polypeptide deficiency cohort (n = 125). A: Sex comparison; B: Age group distribution; C: Comparison of thyroid function; D: Genotype profile, including homozygous, heterozygous, and compound heterozygous variants, and their distribution across Yunnan province; E: Ethnic composition of the cohort and the geographical distribution of ethnic groups within Yunnan; F: Distribution of patients from 15 distinct geographical regions and the geographical distribution of the cohort in Yunnan. ^aP < 0.05, ^bP < 0.01. M: Male; F: Female.

Figure 2 Long-term changes in biochemical profiles, vitamins, and trace elements over 64 months in 84 children with ≥ 3 follow-up visits. Monitored parameters: Total bile acid, total bilirubin, indirect bilirubin, direct bilirubin, alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase, alpha-fetoprotein, Vitamins (A, D, E), Trace elements (Zinc, Fe). TBA: Total bile acid; TBIL: Total bilirubin; IBIL: Indirect bilirubin; DBIL: Direct bilirubin; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; GGT: Gamma-glutamyl transferase; ALP: Alkaline phosphatase; AFP: Alpha-fetoprotein.

Figure 3 Comparative analysis of parameters across age groups in 84 children with ≥ 3 follow-ups. Monitored parameters: Total bile acid, total bilirubin, indirect bilirubin, direct bilirubin, alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase, alpha-fetoprotein, Vitamins (A, D, E), Trace elements (Zinc, Fe). TBA: Total bile acid; TBIL: Total bilirubin; IBIL: Indirect bilirubin; DBIL: Direct bilirubin; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; GGT: Gamma-glutamyl transferase; ALP: Alkaline phosphatase; AFP: Alpha-fetoprotein.

Figure 4 Analysis of the 17 compound heterozygous probands and their families identified a total of 11 distinct SLC10A1 variants.