Analysis of some IFNAR1 gene polymorphisms in HIV-infected patients
https://doi.org/10.22328/2077-9828-2025-17-3-65-72
Abstract
The aim of this study was to examine the genotypic and allelic distribution of certain polymorphic variants of the IFNAR1 gene in HIV-positive patients and evaluate their association with HIV infection.
Materials and methods. The study material consisted of whole blood samples obtained from HIV-infected individuals with virological failure of antiretroviral therapy (n=378) and apparently healthy individuals (n=319). We performed sequencing of all exons of the IFNAR1 gene with partial coverage of flanking intronic sequences, including analysis of the promoter region and a substantial intronic segment in the pre-promoter region, followed by analysis of the obtained nucleotide sequences.
Results and discussion. We demonstrated statistically significant associations with HIV infection for three polymorphic variants of the IFNAR1 gene: rs2843710 (–654 C/G), rs2257167 (exon 4, 18339G>C: Val168Leu), and rs2856973 (intron 10, 28767 A>T). The genotype distribution of all studied polymorphic variants in the analyzed groups conformed to HardyWeinberg equilibrium. Significant differences in genotype distribution were shown between HIV-infected individuals and the control group: rs2843710 — х2=9.624 at p=0.0081; rs2257167 — х2=8.623 at p=0.0134; rs2856973 — х2=10.447 at p=0.0054. The homozygous C/C genotype and minor C allele of rs2257167 locus were associated with predisposition to HIV infection, while the G/G (rs2843710) and T/T (rs2856973) genotypes along with their corresponding G and T alleles demonstrated a pronounced protective effect.
Conclusion. This study reveals an association between IFNAR1 gene polymorphisms and a predisposition to HIV infection, demonstrating their significant, albeit non-exclusive, role in the disease development.
About the Authors
Yu. V. Ostankova
St. Petersburg Pasteur Institute
Russian Federation
Russian Federation
Ostankova Yulia Vladimirovna
St. Petersburg
V. S. Davydenko
St. Petersburg Pasteur Institute
Russian Federation
Russian Federation
St. Petersburg
A. N. Schemelev
St. Petersburg Pasteur Institute
Russian Federation
Russian Federation
St. Petersburg
A. A. Totolian
St. Petersburg Pasteur Institute
Russian Federation
Russian Federation
St. Petersburg
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Review
For citations:
Ostankova Yu.V., Davydenko V.S., Schemelev A.N., Totolian A.A. Analysis of some IFNAR1 gene polymorphisms in HIV-infected patients. HIV Infection and Immunosuppressive Disorders. 2025;17(3):65-72. (In Russ.) https://doi.org/10.22328/2077-9828-2025-17-3-65-72
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