Distribution of the ATP-binding cassette transporter ABCG8 IVS1-2A>G genotype and clinical characteristics of gallbladder patients in Northeastern Mexico: A pilot study

Biliary lithiasis is a multifactorial pathology determined by the interaction of genes and the environment, characterized by alterations in cholesterol homeostasis and in the metabolism of bile salts. A number of gene polymorphisms and mutations have been identified in the ATP-dependent cholesterol...

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Bibliographic Details
Published in:Biomedical reports 2018-09, Vol.9 (3), p.266-270
Main Authors: Frigerio, Pamela, Cepeda-Nieto, Ana Cecilia, Marcos-Morales, Selim, Peña-Velázquez, Abel, Dávila-Flores, Sergio, Salinas-Santander, Mauricio
Format: Article
Language:English
Subjects:
ABCG8 gene
Alleles
Anticoagulants
Bile salts
Body mass index
Calculi
Cholesterol
Deoxyribonucleic acid
Disease
DNA
Enzymes
Gallbladder
Gallstones
Gene polymorphism
Genes
Genotyping
Homeostasis
Hospitals
Lipids
Lipoproteins
Lithiasis
Metabolism
Mutation
Pathology
Patients
Point mutation
Polymerase chain reaction
Polymorphism
Population
Population genetics
Proteins
Restriction fragment length polymorphism
Salts
Studies
Triglycerides
Ultrasound
Weight
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Summary:Biliary lithiasis is a multifactorial pathology determined by the interaction of genes and the environment, characterized by alterations in cholesterol homeostasis and in the metabolism of bile salts. A number of gene polymorphisms and mutations have been identified in the ATP-dependent cholesterol transporter (ABCG8) associated with lithiasis disease. The aim of the present study was to evaluate the association of the ABCG8 gene mutation IVS1-2A>G with cholecystolithiasis in patients from Northeast Mexico. This was a pilot study including 90 Mexican subjects diagnosed by ultrasonography, 57.8% of which presented gallstones. The studied parameters included: Lipid profile, total protein in plasma and polymerase chain reaction-restriction fragment length polymorphism genotyping. Significant differences were identified in total plasma protein, weight and BMI values, with these being these higher in subjects with gallstones (PG) and the presence of gallstones in the evaluated subjects.
ISSN:2049-9434
2049-9442
DOI:10.3892/br.2018.1123