A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.

ABSTRACT:

Background

Cholestatic liver disease disproportionately affects South Asians, yet they remain underrepresented in genomic studies. This recall study aimed to recall volunteers from a British South Asian genetic cohort that were considered to be at high risk of cholestatic liver disease based on their genotype or phenotype.

Methods

Cases were defined as participants with rare (minor allele frequency <1%) heterozygous loss of function (LoF) variants in ABCB4 and ABCB11 (genotype re-call) or with a previous intrahepatic cholestasis of pregnancy (ICP) diagnosis (ICD10 O26.6). Cases were matched 1:1 to controls. A detailed medical and family history was taken along with fasting anthropometric and transient elastography (TE) measurements and blood samples.

Results

Out of 22

SUBMITTER: Constantinides M 

PROVIDER: S-EPMC12738555 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature