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Genetic polymorphism of sterol transporters in children with future gallstones

Markku J Nissinen1, Niina Pitkänen2, Piia Simonen3

  • 1University of Helsinki and Helsinki University Central Hospital, Abdominal Center, Clinic of Gastroenterology, Helsinki, Finland.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
|May 17, 2018
PubMed

Insights

Childhood low phytosterols, a cholesterol metabolism risk trait, predict adult gallstone disease. The ABCG8 19H variant influences this risk, while NPC1L1 variants have a minor effect.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Gastroenterology

Background:

  • Gallstone disease is linked to elevated cholesterol in bile and reduced serum phytosterols.
  • Childhood cholesterol metabolism traits may predict the development of gallstone disease in adulthood.

Purpose of the Study:

  • To investigate how genetic polymorphisms in sterol transporters influence childhood cholesterol metabolism traits that predict adult gallstone disease.
  • To examine the association between ABCG8 and NPC1L1 gene variants and gallstone disease risk.

Main Methods:

  • A retrospective controlled study involving children who later developed gallstones (n=66) and controls (n=126).
  • Genotyping for ABCG8 D19H polymorphism and NPC1L1 gene variations (rs41279633, rs17655652, rs2072183, rs217434, rs2073548).
  • Measurement of serum cholesterol, noncholesterol sterols (phytosterols), and lipids in childhood.

Main Results:

  • Lower childhood phytosterol levels were observed in carriers of the ABCG8 19H risk allele compared to 19D homozygotes.
  • Individuals in the lowest campesterol/cholesterol tertile had a higher likelihood of developing gallstones and carried the 19H allele.
  • The campesterol/cholesterol ratio was significantly lower in gallstone patients, particularly those carrying the 19H allele or specific NPC1L1 variants (rs41279633 CC, rs217434 TT).

Conclusions:

  • A childhood risk trait of cholesterol metabolism, characterized by low phytosterols, predisposes individuals to adult gallstone disease.
  • The ABCG8 19H risk variant is a significant factor influencing this predisposition.
  • Genetic variations in NPC1L1 appear to have a less pronounced impact on noncholesterol sterol levels and gallstone risk.
Abstract

Keywords:
CholesterolNoncholesterol sterolsPlant sterolsSurrogates of cholesterol absorption

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