RESUMEN
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.