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Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response

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Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response. / Sulzbach Denardin, Maiara; Bumiller-Bini Hoch, Valéria; Salviano-Silva, Amanda; Lobo-Alves, Sara Cristina; Adelman Cipolla, Gabriel; Malheiros, Danielle; Augusto, Danillo G; Wittig, Michael; Franke, Andre; Pföhler, Claudia; Worm, Margitta; van Beek, Nina; Goebeler, Matthias; Sárdy, Miklós; Ibrahim, Saleh; Busch, Hauke; Schmidt, Enno; Hundt, Jennifer Elisabeth; Petzl-Erler, Maria Luiza; Beate Winter Boldt, Angelica.

In: LIFE-BASEL, Vol. 14, No. 1, 60, 29.12.2023.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Sulzbach Denardin, M, Bumiller-Bini Hoch, V, Salviano-Silva, A, Lobo-Alves, SC, Adelman Cipolla, G, Malheiros, D, Augusto, DG, Wittig, M, Franke, A, Pföhler, C, Worm, M, van Beek, N, Goebeler, M, Sárdy, M, Ibrahim, S, Busch, H, Schmidt, E, Hundt, JE, Petzl-Erler, ML & Beate Winter Boldt, A 2023, 'Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response', LIFE-BASEL, vol. 14, no. 1, 60. https://doi.org/10.3390/life14010060

APA

Sulzbach Denardin, M., Bumiller-Bini Hoch, V., Salviano-Silva, A., Lobo-Alves, S. C., Adelman Cipolla, G., Malheiros, D., Augusto, D. G., Wittig, M., Franke, A., Pföhler, C., Worm, M., van Beek, N., Goebeler, M., Sárdy, M., Ibrahim, S., Busch, H., Schmidt, E., Hundt, J. E., Petzl-Erler, M. L., & Beate Winter Boldt, A. (2023). Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response. LIFE-BASEL, 14(1), [60]. https://doi.org/10.3390/life14010060

Vancouver

Sulzbach Denardin M, Bumiller-Bini Hoch V, Salviano-Silva A, Lobo-Alves SC, Adelman Cipolla G, Malheiros D et al. Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response. LIFE-BASEL. 2023 Dec 29;14(1). 60. https://doi.org/10.3390/life14010060

Bibtex

@article{3fdf8c6200564461b5104f476dc0f60b,
title = "Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response",
abstract = "Pemphigus foliaceus (PF) is an autoimmune skin blistering disease characterized by antidesmoglein-1 IgG production, with an endemic form (EPF) in Brazil. Genetic and epigenetic factors have been associated with EPF, but its etiology is still not fully understood. To evaluate the genetic association of histone (de)acetylation-related genes with EPF susceptibility, we evaluated 785 polymorphisms from 144 genes, for 227 EPF patients and 194 controls. Carriers of HDAC4_rs4852054*A were more susceptible (OR = 1.79, p = 0.0038), whereas those with GSE1_rs13339618*A (OR = 0.57, p = 0.0011) and homozygotes for PHF21A_rs4756055*A (OR = 0.39, p = 0.0006) were less susceptible to EPF. These variants were not associated with sporadic PF (SPF) in German samples of 75 SPF patients and 150 controls, possibly reflecting differences in SPF and EPF pathophysiology. We further evaluated the expression of histone (de)acetylation-related genes in CD4+ T lymphocytes, using RNAseq. In these cells, we found a higher expression of KAT2B, PHF20, and ZEB2 and lower expression of KAT14 and JAD1 in patients with active EPF without treatment compared to controls from endemic regions. The encoded proteins cause epigenetic modifications related to immune cell differentiation and cell death, possibly affecting the immune response in patients with PF.",
author = "{Sulzbach Denardin}, Maiara and {Bumiller-Bini Hoch}, Val{\'e}ria and Amanda Salviano-Silva and Lobo-Alves, {Sara Cristina} and {Adelman Cipolla}, Gabriel and Danielle Malheiros and Augusto, {Danillo G} and Michael Wittig and Andre Franke and Claudia Pf{\"o}hler and Margitta Worm and {van Beek}, Nina and Matthias Goebeler and Mikl{\'o}s S{\'a}rdy and Saleh Ibrahim and Hauke Busch and Enno Schmidt and Hundt, {Jennifer Elisabeth} and Petzl-Erler, {Maria Luiza} and {Beate Winter Boldt}, Angelica",
year = "2023",
month = dec,
day = "29",
doi = "10.3390/life14010060",
language = "English",
volume = "14",
journal = "LIFE-BASEL",
issn = "2075-1729",
publisher = "MDPI Multidisciplinary Digital Publishing Institute",
number = "1",

}

RIS

TY - JOUR

T1 - Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response

AU - Sulzbach Denardin, Maiara

AU - Bumiller-Bini Hoch, Valéria

AU - Salviano-Silva, Amanda

AU - Lobo-Alves, Sara Cristina

AU - Adelman Cipolla, Gabriel

AU - Malheiros, Danielle

AU - Augusto, Danillo G

AU - Wittig, Michael

AU - Franke, Andre

AU - Pföhler, Claudia

AU - Worm, Margitta

AU - van Beek, Nina

AU - Goebeler, Matthias

AU - Sárdy, Miklós

AU - Ibrahim, Saleh

AU - Busch, Hauke

AU - Schmidt, Enno

AU - Hundt, Jennifer Elisabeth

AU - Petzl-Erler, Maria Luiza

AU - Beate Winter Boldt, Angelica

PY - 2023/12/29

Y1 - 2023/12/29

N2 - Pemphigus foliaceus (PF) is an autoimmune skin blistering disease characterized by antidesmoglein-1 IgG production, with an endemic form (EPF) in Brazil. Genetic and epigenetic factors have been associated with EPF, but its etiology is still not fully understood. To evaluate the genetic association of histone (de)acetylation-related genes with EPF susceptibility, we evaluated 785 polymorphisms from 144 genes, for 227 EPF patients and 194 controls. Carriers of HDAC4_rs4852054*A were more susceptible (OR = 1.79, p = 0.0038), whereas those with GSE1_rs13339618*A (OR = 0.57, p = 0.0011) and homozygotes for PHF21A_rs4756055*A (OR = 0.39, p = 0.0006) were less susceptible to EPF. These variants were not associated with sporadic PF (SPF) in German samples of 75 SPF patients and 150 controls, possibly reflecting differences in SPF and EPF pathophysiology. We further evaluated the expression of histone (de)acetylation-related genes in CD4+ T lymphocytes, using RNAseq. In these cells, we found a higher expression of KAT2B, PHF20, and ZEB2 and lower expression of KAT14 and JAD1 in patients with active EPF without treatment compared to controls from endemic regions. The encoded proteins cause epigenetic modifications related to immune cell differentiation and cell death, possibly affecting the immune response in patients with PF.

AB - Pemphigus foliaceus (PF) is an autoimmune skin blistering disease characterized by antidesmoglein-1 IgG production, with an endemic form (EPF) in Brazil. Genetic and epigenetic factors have been associated with EPF, but its etiology is still not fully understood. To evaluate the genetic association of histone (de)acetylation-related genes with EPF susceptibility, we evaluated 785 polymorphisms from 144 genes, for 227 EPF patients and 194 controls. Carriers of HDAC4_rs4852054*A were more susceptible (OR = 1.79, p = 0.0038), whereas those with GSE1_rs13339618*A (OR = 0.57, p = 0.0011) and homozygotes for PHF21A_rs4756055*A (OR = 0.39, p = 0.0006) were less susceptible to EPF. These variants were not associated with sporadic PF (SPF) in German samples of 75 SPF patients and 150 controls, possibly reflecting differences in SPF and EPF pathophysiology. We further evaluated the expression of histone (de)acetylation-related genes in CD4+ T lymphocytes, using RNAseq. In these cells, we found a higher expression of KAT2B, PHF20, and ZEB2 and lower expression of KAT14 and JAD1 in patients with active EPF without treatment compared to controls from endemic regions. The encoded proteins cause epigenetic modifications related to immune cell differentiation and cell death, possibly affecting the immune response in patients with PF.

U2 - 10.3390/life14010060

DO - 10.3390/life14010060

M3 - SCORING: Journal article

C2 - 38255677

VL - 14

JO - LIFE-BASEL

JF - LIFE-BASEL

SN - 2075-1729

IS - 1

M1 - 60

ER -