تأثیر چند شکلی آلل های مرتبط با سندرم ژیلبرت بر سطح بیلی روبین سرم

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 < ۰٫۰۰۱), and AA allele in rs4148323 polymorphism had more effect on Gilbert’s syndrome in the study population (OR = ۹٫۴۰, CI = ۳٫۴–۲۵٫۹۴). Analysis of serum total bilirubin between two polymorphisms did not find a significant difference between rs8175347 and rs4148323 (p = ۰٫۹۳). Combination of two polymorphisms showed a synergic effect on increasing the serum total bilirubin in this study.

Conclusion

Rs8175347 and rs4148323 had a significant effect on increasing the bilirubin level, and their effect increased when they were combined with each other.

View full text: https://doi.org/10.1016/j.mgene.2020.100788