Population genetic research of the mutation in ugt1a1 gene associated with reduced activity of liver UDP-glucuronosyltransferase A1

Abstract

Aim. To explore allele and genotype frequencies of the rs8175347 polymorphism within the UGT1A1 gene in Kemerovo Region. Materials and Methods. The study sample included 64 male and 68 female inhabitants of the Kemerovo Region. Upon DNA isolation from the peripheral blood leukocytes, we conducted allele-specific polymerase chain reaction followed by electrophoretic detection of the genotype. Results. The frequency of minor allele *28 of rs8175347 polymorphism, which is associated with the downregulation of UDP-glucuronosyltransferase А1 in the liver, was 33.3%, while the frequency of *28/*28 genotype was 13.6% and did not significantly differ in the examined men and women. Conclusion. High frequency of the *28/*28 genotype in the studied sample suggests a high prevalence of reduced UDP-glucuronosyltransferase А1 activity and associated conditions including Gilbert’s syndrome and adverse drug reactions.