Pamela Frigerio, Ana Cecilia Cepeda-Nieto, Selim Marcos-Morales, Abel Peña-Velázquez, Sergio Dávila-Flores, Mauricio Salinas-Santander*
Facultad de Medicina Unidad Saltillo, Universidad Autónoma de Coahuila, Saltillo, Coahuila 25000, Mexico, Departamento de Investigación, Facultad de Medicina Unidad Saltillo, Universidad Autónoma de Coahuila, Saltillo, Coahuila 25000, Mexico, Departamento de Cirugía, Hospital Universitario de Saltillo ‘Dr. Gonzalo Valdés Valdés’, Universidad Autónoma de Coahuila, Saltillo, Coahuila 2500, Mexico
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 (P<0.05). The presence of the mutant allele IVS1-2G was not detected, and the IVS1-2A wild-type allele was present in 100% of the population. Therefore, no association was apparent between the presence of the splice site mutation in ABCG8 (IVS1-2A>G) and the presence of gallstones in the evaluated subjects.