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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
Summary
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.
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