Nucleotide sequence variants in IL4 and TNFA genes in patients with dermatoses and xerosis

Currently, pathogenesis of atopic dermatitis (AD) and psoriasis is being reviewed due to the fact that a concept of the possibility of switching the inflammatory reaction with different profiles of pro-inflammatory cytokines depending on the body condition (age, pregnancy) and the received treatment (GEBT) has been formed. Objective. To study the nucleotide sequence variants (NSVs) in filaggrin (FLG), interleukin 4 (IL4) and tumor necrosis factor α (TNFA) genes in patients with psoriasis and AD. The results of NSVs testing in the genes of cells obtained by scraping of the skin epithelium of the inner surface of the cheek were analyzed. A total of 5 study groups (419 patients) were formed: a control group (n=78) and 4 groups of patients with skin diseases in association with dry skin. Results. Pathogenic NSVs in the FLG gene have been encountered among patients with psoriasis occurring in addition to skin xerosis with approximately the same frequency as in healthy people who applied for preventive examination (7.4% and 5.1%, respectively). No significant differences in the incidence of pathogenic NSVs in the FLG gene have been found in patients with AD of different severity in presence of xerosis as well: 26.6% of patients with mild and moderate disease and 27.2% with severe AD had pathogenic NSVs. The minor «T» allele in the IL4 gene has been found in 21/2% of individuals in the control group and in 31.8% of patients with severe AD. In addition, patients with severe AD were more likely (22/7%) to have the minor «A» allele of the TNFA gene, which has been found in 10.3% of patients in the control group, and least often (7.4%) in psoriasis. Conclusion. The obtained results allow to recommend performance of genetic testing in patients with AD and xerosis for identification of NSVs in the FLG gene and to carry out determination of the minor «T» and «A» alleles of the IL4 and TNFA genes, respectively, if 2282del4 pathological NSV in the FLG gene is detected.

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Publication Details

Journal
Russian Journal of Clinical Dermatology and Venereology
Published
2025-04-25
DOI
https://doi.org/10.17116/klinderma202524021178
Primary Topic
Dermatology and Skin Diseases
Type
article
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article

Nucleotide sequence variants in IL4 and TNFA genes in patients with dermatoses and xerosis

Н. В. Кох, I.G. Sergeeva, N. V. Yurina, O.A. Makeenko et al.
Russian Journal of Clinical Dermatology and Venereology
Dermatology and Skin Diseases
article

Nucleotide sequence variants in IL4 and TNFA genes in patients with dermatoses and xerosis

Н. В. Кох, I.G. Sergeeva, N. V. Yurina, O.A. Makeenko, Tatiana Vladimirovna Kovalevskaya-Kucheryavenko, Е. Н. Воронина, A.A. Eremina
article en

Abstract

Currently, pathogenesis of atopic dermatitis (AD) and psoriasis is being reviewed due to the fact that a concept of the possibility of switching the inflammatory reaction with different profiles of pro-inflammatory cytokines depending on the body condition (age, pregnancy) and the received treatment (GEBT) has been formed. Objective. To study the nucleotide sequence variants (NSVs) in filaggrin (FLG), interleukin 4 (IL4) and tumor necrosis factor α (TNFA) genes in patients with psoriasis and AD. The results of NSVs testing in the genes of cells obtained by scraping of the skin epithelium of the inner surface of the cheek were analyzed. A total of 5 study groups (419 patients) were formed: a control group (n=78) and 4 groups of patients with skin diseases in association with dry skin. Results. Pathogenic NSVs in the FLG gene have been encountered among patients with psoriasis occurring in addition to skin xerosis with approximately the same frequency as in healthy people who applied for preventive examination (7.4% and 5.1%, respectively). No significant differences in the incidence of pathogenic NSVs in the FLG gene have been found in patients with AD of different severity in presence of xerosis as well: 26.6% of patients with mild and moderate disease and 27.2% with severe AD had pathogenic NSVs. The minor «T» allele in the IL4 gene has been found in 21/2% of individuals in the control group and in 31.8% of patients with severe AD. In addition, patients with severe AD were more likely (22/7%) to have the minor «A» allele of the TNFA gene, which has been found in 10.3% of patients in the control group, and least often (7.4%) in psoriasis. Conclusion. The obtained results allow to recommend performance of genetic testing in patients with AD and xerosis for identification of NSVs in the FLG gene and to carry out determination of the minor «T» and «A» alleles of the IL4 and TNFA genes, respectively, if 2282del4 pathological NSV in the FLG gene is detected.

Russian Journal of Clinical Dermatology and VenereologyVol. 24(2)
Novosibirsk State Medical University (RU), Novosibirsk State University (RU), Institute of Chemical Biology and Fundamental Medicine (RU), Research Institute of Fundamental and Clinical Immunology (RU), Siberian Branch of the Russian Academy of Sciences (RU)
Openalex Percentile: Top 83%
Dermatology and Skin Diseases
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