ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
Copyright: © 2025 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
ORIGINAL RESEARCH
Panel of IFN-I-induced genes in systemic scleroderma: a stratification biomarker potential
About authors
1 Pirogov Russian National Research Medical University, Moscow, Russia
2 MyLaboratory LLC, Moscow, Russia
3 Moscow City Research Center Hospital No. 52, Moscow, Russia
4 Federal Scientific and Clinical Center of Resuscitation and Rehabilitation, Moscow, Russia
5 Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry Russian Academy of Sciences, Moscow, Russia
Correspondence should be addressed: Olga V. Britanova
Miklukho-Maklaya, 16/10, Moscow, 117997, Russia; moc.liamg@natirblo; Zinaida Yu. Mutovina — Pekhotnaya, 3, Moscow, 123182, Russia, ur.liam@anivotumz
About paper
Funding: the study was supported by the grant from the Moscow Government (R&D project No. 1603-47/23 dated 08.06.2023), sponsored by the Moscow Center for Innovative Technologies in Healthcare.
Author contribution: Mutovina ZYu — concept; Zhurina TI, Saifullin RF — acquisition of rheumatology and medicine data; literature review; Myshkin MYu — data analysis; Bufeeva LS — sample collection, RNA extraction; Shagina IA — RT-qPCR optimization and procedure, primary data analysis, manuscript writing, literature review; Turchaninova MA, Golovina OA, Britanova OV — manuscript writing, literature review.
Compliance with ethical standards: the study was conducted in accordance with the Declaration of Helsinki. The informed consent for biomaterial collection and testing during inpatient assessment settings was obtained from all patients.
Received: 2025-09-06
Accepted: 2025-10-08
Published online: 2025-10-21
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Fig. 1. Comparison of the test gene relative expression levels by RT-qPCR (p-value — based on the Mann–Whitney test) between skin samples in the groups of patients with SS (n = 23) and healthy donors (n = 3) (A), between peripheral blood samples in the groups of patients with SS (n = 35) and healthy donors (n = 31) (B)
**Fig. 2**. Comparison of interferon signature in blood and skin of patients with SS. **А**. Comparison of relative expression levels of the test genes IFIT3, IFI27, IFI44, ISG15, XAF1 in the RNA samples obtained from the skin and peripheral blood of SS patients (n = 10) represented as a box-plot. The Wilcoxon signed-rank test was used. **B**. Pairwise correlation of the IFN-I panel gene expression between blood and skin. **C**. A bar chart shows the mean log fold change) for the skin and blood. Negative values indicate higher expression in blood, and positive values indicate higher expression in the skin. **D**. Correlation of the averaged IFN-I signature of blood and skin for paired samples (n = 10), (R = 0.49; p = 0.15). **B, D** Spearman’s rank correlation coefficient is used (grey areas — 95% CI). **E**. IFN-I signature values (z-score, standardized against donor values) in skin biopsy samples: red dots — healthy donors (n = 3), blue dots — SS patients (n = 23). F**. IFN-I signature values (z-score, standardization by healthy donors) in peripheral blood samples. Red dots — healthy donors (n = 31), blue dots — SS patients (n = 35, including 10 paired skin/blood samples). The dashed line shows the threshold interval
Fig. 3. Correlation matrix for expression levels of the IFN-I signature genes (IFI44, IFIT3, ISG15, IFI27, XAF1) in the samples and clinical signs of the group of SS patients for peripheral blood (n = 35) (A) and affected skin samples (n = 23) (B). The SFRP4 gene expression was added as a disease marker. The circle color indicates the correlation sign and strength: blue — positive, red — negative; the more saturated the color, the closer |r| to 1. The circle size is proportional to the Spearman’s rank correlation module (coefficient)
Table 1. Results of clinical and immunological assessment of SS patients (n = 48)
Table 2. Gene expression levels in skin samples in the groups of patients with SS (n = 23) and healthy donors (n = 3) (A), in peripheral blood samples in the groups of patients with SS (n = 35) and healthy donors (n = 31) (B)
Note: * iqr — interquartile range.
Table 3. Expression of the test genes IFIT3, IFI27, IFI44, ISG15, XAF1 in the RNA samples obtained from peripheral blood of the same SS patients (n = 10)
Note: * — interquartile range
Table 4. Values of the correlation between the expression of the IFN-I signature genes (IFI44, IFIT3, ISG15, IFI27, XAF1) in the samples and clinical signs of the group of SS patients for blood (n = 35), (4А) and skin (n = 23) samples (4B)
