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Cholesterol Efflux Assay
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[Relationship Between LEP G2548A Polymorphism and Cholesterol Gallstone].

Jing Chen1, Jie He2, Jiang-Hui Chen1

  • 1Department of Preventive Medicine, School of Public Health, Xiamen University, Xiamen 361102, China.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition
|June 16, 2017
PubMed
Summary

Individuals with the AA genotype of the leptin (LEP) G2548A gene and high serum leptin levels are more susceptible to cholesterol gallstone. Lower tea consumption and regular exercise may offer protection.

Keywords:
Cholesterol gallstoneInteractionLEPMultifactor dimensionality reductionSNP

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Area of Science:

  • Genetics and Molecular Biology
  • Gastroenterology
  • Epidemiology

Background:

  • Cholesterol gallstone disease is a significant health concern.
  • Genetic and environmental factors play a role in its pathogenesis.
  • The leptin gene (LEP) and its single nucleotide polymorphisms (SNPs) are investigated for their association with gallstone formation.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphism (SNP) in the leptin (LEP) gene and environmental factors with cholesterol gallstone disease.
  • To explore potential gene-environment interactions in the development of cholesterol gallstone.

Main Methods:

  • A 1:2 matched case-control study involving 200 cholesterol gallstone patients.
  • Genotyping of the LEP G2548A SNP using high-resolution melting (HRM) analysis on a LightCycler480 PCR platform.
  • Multifactor dimensionality reduction (MDR) analysis to assess gene-environment interactions.

Main Results:

  • The AA genotype of LEP G2548A was associated with higher serum leptin levels.
  • Predictors of cholesterol gallstone included high serum leptin, AA genotype, family history, high systolic blood pressure, and smoking.
  • Regular strong tea consumption and exercise were identified as protective factors.

Conclusions:

  • Individuals with the AA genotype of LEP G2548A and elevated serum leptin are at increased risk for cholesterol gallstone.
  • Gene-environment interaction analysis highlighted tea drinking, LEP genotype, and serum leptin as a key model.
  • Lifestyle factors like tea consumption and exercise can influence gallstone risk.