Effect of gilbert's syndrome associated polymorphic alleles (rs8175347 and rs4148323) of UDP-glucuronyl transferase on serum bilirubin level

Abstract Background The most common mutations in Gilbert's syndrome are associated with the promoter region of the gene (rs8175347) and the codon region in exon1 (rs4148323). This is the comparative study of the bilirubin level with rs8175347 (UGT1A1*28) and rs4148323 (UGT1A1*6) polymorphisms in patients with Gilbert's syndrome. Methods The study subjects included 63 individuals with suspected Gilbert's syndrome and 61 healthy individuals. After clinical screening test, rs8175347 and rs4148323 polymorphisms were evaluated using PCR-SSCP, sequencing analysis and PCR-RFLP methods, respectively. Results Genotype distribution of rs4148323 polymorphism in the exon1 region was more than that of rs8175347 polymorphism in the population with Gilbert's syndrome (p  Conclusion Rs8175347 and rs4148323 had a significant effect on increasing the bilirubin level, and their effect increased when they were combined with each other.