DNA Copy Number Variation Associated with Anti-tumour Necrosis Factor Drug Response and Paradoxical Psoriasiform Reactions in Patients with Moderate-to-severe Psoriasis

Authors

  • Ancor Sanz-Garcia
  • Alejandra Reolid
  • Laura H. Fisas
  • Ester Muñoz-Aceituno
  • Mar Llamas-Velasco
  • Antonio Sahuquillo-Torralba
  • Rafael Botella-Estrada
  • Jorge García-Martínez
  • Raquel Navarro
  • Esteban Daudén Dept of Dermatology, Hospita Univ de la Princesa Dieg de León, 62, ES-28006 Madrid, Spain
  • Francisco Abad-Santos
  • Maria C. Ovejero-Benito

DOI:

https://doi.org/10.2340/00015555-3794

Keywords:

pharmacogenomic, CNV, psoriasis, anti-TNF drug, methylation

Abstract

Biological drugs targeting tumour necrosis factor are effective for psoriasis. However, 30–50% of patients do not respond to these drugs and may even develop paradoxical psoriasiform reactions. This study search­ed for DNA copy number variations that could predict anti-tumour necrotic factor drug response or the appearance of anti-tumour necrotic factor induced psoriasiform reactions. Peripheral blood samples were collected from 70 patients with anti-tumour necrotic factor drug-treated moderate-to-severe plaque psoriasis. Samples were analysed with an Illumina 450K methylation microarray. Copy number variations were obtained from raw methylation data using conumee and Chip Analysis Methylation Pipeline (ChAMP) R packages. One copy number variation was found, harbouring one gene (CPM) that was significantly associated with adalimumab response (Bonferroni-adjusted p-value < 0.05). Moreover, one copy number variation was identified harbouring 3 genes (ARNT2, LOC101929586 and MIR5572) related to the development of paradoxical psoriasiform reactions. In conclusion, this study has identified DNA copy number variations that could be good candidate markers to predict response to adalimumab and the development of anti-tumour necrotic factor paradoxical psoriasiform reactions.

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Additional Files

Published

2021-05-04

How to Cite

Sanz-Garcia, A., Reolid, A., Fisas, L. H., Muñoz-Aceituno, E., Llamas-Velasco, M., Sahuquillo-Torralba, A., Botella-Estrada, R., García-Martínez, J., Navarro, R., Daudén, E., Abad-Santos, F., & Ovejero-Benito, M. C. (2021). DNA Copy Number Variation Associated with Anti-tumour Necrosis Factor Drug Response and Paradoxical Psoriasiform Reactions in Patients with Moderate-to-severe Psoriasis. Acta Dermato-Venereologica, 101(5), adv00448. https://doi.org/10.2340/00015555-3794