Several Proinflammatory Genes' Variability and Phenotypes of
Atopic Dermatitis in Czech Adult AD Patients

J 2025

Several Proinflammatory Genes' Variability and Phenotypes of Atopic Dermatitis in Czech Adult AD Patients

VAŠKŮ, Vladimír a Anna VAŠKŮ

Základní údaje

Originální název

Several Proinflammatory Genes' Variability and Phenotypes of Atopic Dermatitis in Czech Adult AD Patients

Autoři

VAŠKŮ, Vladimír a Anna VAŠKŮ

Vydání

Genes, Basel, MDPI, 2025, 2073-4425

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30216 Dermatology and venereal diseases

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.800 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00143741

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

atopic dermatitis; genetics; marker; phenotype; family history

Štítky

14110125, 14110518, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 24. 2. 2026 07:32, Mgr. Tereza Miškechová

Anotace

V originále

Background: The etiopathogenesis of atopic dermatitis is complicated, and it includes aspects such as dysfunction of the skin barrier, changes in immune responses, IgE-mediated hypersensitivity, and many characteristics of the environment. Regarding skin barrier dysfunction, a number of genetic changes have been described. This genetic predisposition could be related to the phenotypes of atopic dermatitis. Aim: In this study, several polymorphisms in five proinflammatory genes were associated with certain phenotypes of AD patients (genotype-phenotype study). Methods: In total, 89 unrelated AD Czech (Caucasian) patients were genotyped regarding five proinflammatory gene polymorphisms (angiotensinogen AGT M235T, AGT-6 G/A, TNF-alpha-238 G/A, TNF-beta Fok1, IL-6-174 C/G and IL-6-596 G/A). Genotyping was performed using PCR and restriction analysis. For phenotypes, patients' sex, age and personal and family history of atopy, aero- and food allergies and other complex diseases were evaluated. Results: A significant association with transepidermal water loss (TEWL) measured on the forearm was found with the AGT M235T polymorphism (p = 0.02). For the AG genotype of TNF-alpha-238 G/A, a six-times higher risk for a family history of diabetes mellitus compared to other examined aspects of family history was found (p = 0.02). A family history of thyreopathy was associated with the IL-6-174 G/C polymorphism when compared to a family history of other complex diseases. The GG genotype had a ten-times higher risk for a family history of thyreopathy compared to the other genotypes (p = 0.004). This result was highly specific (0.914). The GG genotype of IL-6-596 G/A was associated with a family history of thyreopathy, with the same result (p = 0.004). Moreover, the G allele of IL-6-174 G/C was associated with a family history of thyreopathy compared to AD patients without a positive family history of complex diseases (p = 0.03). In AD men, the MM genotype of the AGT M235T gene was found to be associated with food allergies (p = 0.004). This result was highly sensitive (0.833). A family history of cardiovascular disease in AD men was associated with AGT-6 G/A variability. The A allele was found to be six times more frequent in patients with a positive family history of cardiovascular disease (p = 0.02, with high sensitivity and specificity (0.700 and 0.735, respectively)). A family history of diabetes mellitus was associated with the TNF-beta Fok1 polymorphism, where the B1 allele was almost six times more frequent in AD men with a positive family history of diabetes mellitus (p = 0.02), with high sensitivity (0.85). A significant association between TEWL measured on the forearm and the AGT M235T polymorphism was found when AD women were carriers of the MM genotype, with a median of 25 and range 4-61; those patients with the MT genotype had a median of 10 and range of 0.3-39; and patients with the TT genotype had a median of 5 and range of 3-40, p = 0.003. The polymorphism AGT-6 G/A was associated with different ages of eczema onset. The AG genotype was almost nine times more risky for the youngest group (0-7 years) compared to the oldest group (more than 18 years) (p = 0.02), with high specificity for this result. Conclusions: Our results in the field of cytokine signaling in the immune system in patients with atopic dermatitis are in agreement with those of GWASs. We suggest that cost-effective and simple PCR tests may be the best approach for the rapid and optimal collection of valid genetic information in clinical practice.

Návaznosti

MUNI/A/0974/2012, interní kód MU

Název: Nové patofyziologické aspekty komplexních nemocí (Akronym: Patofyziologie komplexních nemocí)

Investor: Masarykova univerzita, Nové patofyziologické aspekty komplexních nemocí, DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

Citovat

VAŠKŮ, Vladimír a Anna VAŠKŮ. Several Proinflammatory Genes' Variability and Phenotypes of Atopic Dermatitis in Czech Adult AD Patients. Genes. Basel: MDPI, 2025, roč. 16, č. 6, s. 1-9. ISSN 2073-4425. Dostupné z: https://doi.org/10.3390/genes16060703.

@article{2556378,
   author = {Vašků, Vladimír and Vašků, Anna},
   article_location = {Basel},
   article_number = {6},
   doi = {https://doi.org/10.3390/genes16060703},
   keywords = {atopic dermatitis; genetics; marker; phenotype; family history},
   language = {eng},
   issn = {2073-4425},
   journal = {Genes},
   title = {Several Proinflammatory Genes' Variability and Phenotypes of Atopic Dermatitis in Czech Adult AD Patients},
   url = {https://www.mdpi.com/2073-4425/16/6/703},
   volume = {16},
   year = {2025}
}

TY  - JOUR
ID  - 2556378
AU  - Vašků, Vladimír - Vašků, Anna
PY  - 2025
TI  - Several Proinflammatory Genes' Variability and Phenotypes of Atopic Dermatitis in Czech Adult AD Patients
JF  - Genes
VL  - 16
IS  - 6
SP  - 1-9
EP  - 1-9
PB  - MDPI
SN  - 20734425
KW  - atopic dermatitis
KW  - genetics
KW  - marker
KW  - phenotype
KW  - family history
UR  - https://www.mdpi.com/2073-4425/16/6/703
N2  - Background: The etiopathogenesis of atopic dermatitis is complicated, and it includes aspects such as dysfunction of the skin barrier, changes in immune responses, IgE-mediated hypersensitivity, and many characteristics of the environment. Regarding skin barrier dysfunction, a number of genetic changes have been described. This genetic predisposition could be related to the phenotypes of atopic dermatitis. Aim: In this study, several polymorphisms in five proinflammatory genes were associated with certain phenotypes of AD patients (genotype-phenotype study). Methods: In total, 89 unrelated AD Czech (Caucasian) patients were genotyped regarding five proinflammatory gene polymorphisms (angiotensinogen AGT M235T, AGT-6 G/A, TNF-alpha-238 G/A, TNF-beta Fok1, IL-6-174 C/G and IL-6-596 G/A). Genotyping was performed using PCR and restriction analysis. For phenotypes, patients' sex, age and personal and family history of atopy, aero- and food allergies and other complex diseases were evaluated. Results: A significant association with transepidermal water loss (TEWL) measured on the forearm was found with the AGT M235T polymorphism (p = 0.02). For the AG genotype of TNF-alpha-238 G/A, a six-times higher risk for a family history of diabetes mellitus compared to other examined aspects of family history was found (p = 0.02). A family history of thyreopathy was associated with the IL-6-174 G/C polymorphism when compared to a family history of other complex diseases. The GG genotype had a ten-times higher risk for a family history of thyreopathy compared to the other genotypes (p = 0.004). This result was highly specific (0.914). The GG genotype of IL-6-596 G/A was associated with a family history of thyreopathy, with the same result (p = 0.004). Moreover, the G allele of IL-6-174 G/C was associated with a family history of thyreopathy compared to AD patients without a positive family history of complex diseases (p = 0.03). In AD men, the MM genotype of the AGT M235T gene was found to be associated with food allergies (p = 0.004). This result was highly sensitive (0.833). A family history of cardiovascular disease in AD men was associated with AGT-6 G/A variability. The A allele was found to be six times more frequent in patients with a positive family history of cardiovascular disease (p = 0.02, with high sensitivity and specificity (0.700 and 0.735, respectively)). A family history of diabetes mellitus was associated with the TNF-beta Fok1 polymorphism, where the B1 allele was almost six times more frequent in AD men with a positive family history of diabetes mellitus (p = 0.02), with high sensitivity (0.85). A significant association between TEWL measured on the forearm and the AGT M235T polymorphism was found when AD women were carriers of the MM genotype, with a median of 25 and range 4-61; those patients with the MT genotype had a median of 10 and range of 0.3-39; and patients with the TT genotype had a median of 5 and range of 3-40, p = 0.003. The polymorphism AGT-6 G/A was associated with different ages of eczema onset. The AG genotype was almost nine times more risky for the youngest group (0-7 years) compared to the oldest group (more than 18 years) (p = 0.02), with high specificity for this result. Conclusions: Our results in the field of cytokine signaling in the immune system in patients with atopic dermatitis are in agreement with those of GWASs. We suggest that cost-effective and simple PCR tests may be the best approach for the rapid and optimal collection of valid genetic information in clinical practice.
ER  -

VAŠKŮ, Vladimír a Anna VAŠKŮ. Several Proinflammatory Genes' Variability and Phenotypes of Atopic Dermatitis in Czech Adult AD Patients. \textit{Genes}. Basel: MDPI, 2025, roč.~16, č.~6, s.~1-9. ISSN~2073-4425. Dostupné z: https://doi.org/10.3390/genes16060703.

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