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Association of variant rs28899472 of the UGT1A1 gene with Gilbert’s syndrome phenotype
https://doi.org/10.25557/2073-7998.2026.02.47-49
Abstract
Determination of 7TA – repeats in the promoter of the UGT1A1 gene (rs3064744) can’t always explain the presence of clinical symptoms in patients with Gilbert’s syndrome (GS) phenotype. During sequencing of the exons and part of promoter of the UGT1A1 gene in 24 individuals with the GS phenotype, a single nucleotide variant rs28899472 of the UGT1A1 gene of uncertain clinical significance was found in a heterozygous state in 3 individuals. The aim of the study is to search for an association between GS and the rs28899472 variant of the UGT1A1 gene. We found that the CT genotype of the rs28899472 variant of the UGT1A1 gene is a risk genotype for the GS phenotype, while the CC genotype is protective in its relation. An association between the CT genotype and the level of total and unconjugated bilirubin was established.
About the Authors
Yu. V. Ivanova
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
A. A. Ivanova
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
N. E. Apartseva
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
A. P. Kashirina
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
E. G. Nemcova
North-Western State Medical University named after I.I. Mechnikov
Russian Federation
Russian Federation
41, Kirochnaya st., Saint Petersburg, 191015, Russian Federation
M. V. Kruchinina
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
S. A. Kurilovich
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
V. N. Maksimov
Research Institutе of Internal and Preventive Medicine − Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1, B. Bogatkova st., Novosibirsk, 630089, Russian Federation
References
1. Vitek L., Tiribelli C. Bilirubin: The yellow hormone? Journal of Hepatology. 2021; 75: 1485–1490. DOI: 10.1016/j.jhep.2021.06.010
2. Ivanova A.A., Gurazheva A.A., Mel’nikova E.S. et al. tudy of molecular genetic markers of Gilbert’s syndrome. Bulletin of Siberian Medicine. 2023;22(2):39-45. https://doi.org/10.20538/1682-0363-2023-2-39-45
3. Ivanova А.А., Apartseva N.E., Kashirina A.P., et al. Detection of major mutations in CFTR, SERPINA1, HFE genes in benign unconjugated hyperbilirubinemia phenotype. Sovremennye tehnologii v medicine [Modern Technologies in Medicine]. 2024; 16(4): 38-45. https://doi.org/10.17691/stm2024.16.4.04
4. Ivanova A.A., Apartseva N.E., Kashirina A.P. et al. Results of UGT1A1 gene sequencing in individuals with the Gilbert syndrome phenotype. Bulletin of Siberian Medicine. 2024;23(2):65-73. https://doi.org/10.20538/1682-0363-2024-2-65-73
Review
For citations:
Ivanova Yu.V., Ivanova A.A., Apartseva N.E., Kashirina A.P., Nemcova E.G., Kruchinina M.V., Kurilovich S.A., Maksimov V.N. Association of variant rs28899472 of the UGT1A1 gene with Gilbert’s syndrome phenotype. Medical Genetics. 2026;25(2):47-49. (In Russ.) https://doi.org/10.25557/2073-7998.2026.02.47-49
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