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Updated: May 5, 2026

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Apolipoprotein E polymorphism and gallstones

A Bertomeu1, E Ros, D Zambón

  • 1Lipid Clinic, Hospital Clínic i Provincial, Barcelona, Spain.

Gastroenterology
|December 1, 1996
PubMed
Summary
This summary is machine-generated.

Apolipoprotein E4 (apo E4) is a genetic risk factor for gallstone formation in humans. This finding adds to the adverse health effects associated with apo E gene variations.

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Area of Science:

  • Genetics
  • Metabolic Diseases
  • Gastroenterology

Background:

  • Apolipoprotein E (apo E) is a polymorphic protein impacting lipoprotein metabolism and disease risk.
  • The apo E4 isoform increases hepatic lipoprotein uptake, potentially promoting cholesterol gallstone formation.
  • This study investigated the association between apo E polymorphism and gallstone risk.

Purpose of the Study:

  • To determine if apolipoprotein E (apo E) gene polymorphism is linked to an increased risk of developing gallstones.
  • To evaluate the influence of different apo E phenotypes on gallstone prevalence and characteristics.

Main Methods:

  • Determined apo E phenotype in individuals over 40 with (n=160) and without (n=125) gallstones.
  • Analyzed bile composition, nucleation time, and gallstone features in 61 patients undergoing cholecystectomy for cholesterol gallstones.

Main Results:

  • The apo E4/3 phenotype was more common in patients with gallstones and those who had undergone cholecystectomy.
  • Significantly higher frequencies of the epsilon 4 allele were observed in gallstone patients (OR 2.67-3.62).
  • Biliary lipid and gallstone cholesterol content increased with the E4 > E3 > E2 sequence.

Conclusions:

  • The presence of the apo E4 isoform is a significant genetic risk factor for human cholelithiasis (gallstones).
  • This finding highlights another detrimental health impact of apo E gene polymorphism.