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Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features

Casey R Johnson1, Lily Gillette1, Qurbonali Qurbonov1

  • 1Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

Inflammatory Bowel Diseases
|July 11, 2026
PubMed

Insights

Novel biallelic SLC10A2 variants cause primary bile acid malabsorption (PBAM). Reanalyzing pediatric inflammatory bowel disease (IBD) cases identified similar genotypes, suggesting targeted testing for suggestive symptoms.

Area of Science:

  • Genetics
  • Gastroenterology
  • Biochemistry

Background:

  • Primary bile acid malabsorption (PBAM) is a rare condition affecting nutrient absorption.
  • Genetic variants in SLC10A2 are implicated in bile acid transport.
  • Accurate diagnosis is crucial for appropriate management and differentiating from other gastrointestinal disorders.

Purpose of the Study:

  • To report novel biallelic SLC10A2 variants causing biochemically and functionally validated PBAM.
  • To investigate the prevalence of PBAM-compatible genotypes in a pediatric IBD cohort.
  • To establish clinical criteria for selective genetic testing in suspected PBAM cases.

Main Methods:

  • Biochemical assays to assess bile acid levels and transport.
  • Functional studies to validate the impact of SLC10A2 variants.
  • Genomic sequencing and analysis of a pediatric IBD cohort.
  • Retrospective analysis of clinical and genotypic data.

Main Results:

  • Identified novel biallelic SLC10A2 variants in a child with unexplained gastrointestinal symptoms.
  • Biochemical and functional validation confirmed these variants cause PBAM.
  • Reanalysis of a pediatric IBD cohort revealed PBAM-compatible genotypes in a subset of patients.
  • Clinical features suggestive of PBAM were associated with these genotypes.

Conclusions:

  • Novel SLC10A2 variants are a cause of PBAM in children.
  • Genetic testing for SLC10A2 variants should be considered in pediatric patients with suggestive clinical features, particularly those initially diagnosed with IBD.
  • This finding aids in differentiating PBAM from IBD and other gastrointestinal conditions, enabling targeted therapy.

Keywords:
Clostridioides difficile infectionSLC10A2apical sodium-dependent bile acid transporter (ASBT)bile acid diarrheaprimary bile acid malabsorption

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