Related Experiment Video

Updated: Aug 9, 2026

Quantification of Atherosclerosis in Mice
06:59

Quantification of Atherosclerosis in Mice

Published on: June 12, 2019

Association of APOE-C1 gene cluster polymorphisms with gallstone disease

M Dixit1, G Choudhuri, B Mittal

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India. manjushadixit99@yahoo.com

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
|April 25, 2006
PubMed

Insights

The APOC1 HpaI polymorphism is linked to gallstone disease, particularly in females, indicating a significant risk. The APOE HhaI polymorphism shows no association with gallstone disease.

Area of Science:

  • Genetics
  • Molecular Biology
  • Epidemiology

Background:

  • Genetic variations in apolipoprotein genes may influence lipid profiles and gallstone disease risk.
  • Understanding these genetic associations is crucial for identifying individuals susceptible to gallstone formation.

Purpose of the Study:

  • To investigate the association between apolipoprotein E (APOE) HhaI and apolipoprotein C1 (APOC1) HpaI gene polymorphisms and gallstone disease.
  • To determine if these polymorphisms impact susceptibility to gallstone formation.

Main Methods:

  • Genotyping of APOE HhaI and APOC1 HpaI polymorphisms was performed on DNA samples from 214 gallstone patients and 322 healthy controls.
  • Polymerase chain reaction and restriction digestion were used for genotyping, with statistical analyses conducted using SPSS and ARLEQUIN software.

Main Results:

  • A significant association was found between the APOC1 HpaI polymorphism and gallstone disease (P = 0.017).
  • The H2H2 genotype of APOC1 HpaI conferred a high risk (OR 9.416) and was more frequent in patients.
  • This association was specific to females (P = 0.011), with no allele-level association observed.

Conclusions:

  • The APOC1 HpaI polymorphism is associated with gallstone disease, exhibiting gender-specific effects.
  • APOE HhaI polymorphism does not appear to be associated with gallstone disease in this study population.
Abstract

More Related Videos

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease09:38

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Cholecystitis01:20

Cholecystitis

Cholecystitis is inflammation of the gallbladder, most commonly caused by obstruction of the cystic duct. This blockage prevents bile from draining, leading to gallbladder distension, inflammation, and potentially serious complications. This condition may present acutely or chronically and can happen with or without gallstones.EtiologyAbout 95% of cholecystitis cases are calculous, caused by gallstones blocking the cystic duct, leading to bile accumulation and inflammation of the gallbladder...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...