Prevalence of genetic variants in SERPINB2 and PKNOX1 genes in erythema nodosum leprosum patients from southern Brazil

Simone Perazzoli; Miriãn FM Fiuza; Paulo Cezar de Moraes; Renata Heck; Fernanda SL Vianna; Renan R Bonamigo

doi:10.3855/jidc.20688

Prevalence of genetic variants in SERPINB2 and PKNOX1 genes in erythema nodosum leprosum patients from southern Brazil

Authors

Simone Perazzoli Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre/UFCSPA, Porto Alegre, RS, Brazil https://orcid.org/0000-0001-5943-8339
Miriãn FM Fiuza Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul/UFRGS, Porto Alegre, RS, Brazil https://orcid.org/0000-0002-8152-1013
Paulo Cezar de Moraes Graduate Program in Medical Sciences, Medical School, Universidade Federal do Rio Grande do Sul/UFRGS, Porto Alegre, RS, Brazil
Renata Heck Service of Dermatology, Hospital de Clínicas de Porto Alegre/HCPA, Porto Alegre, RS, Brazil https://orcid.org/0000-0003-2352-3915
Fernanda SL Vianna Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul/UFRGS, Porto Alegre, RS, Brazil https://orcid.org/0000-0001-6339-4869
Renan R Bonamigo Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre/UFCSPA, Porto Alegre, RS, Brazil https://orcid.org/0000-0003-4792-8466

DOI:

https://doi.org/10.3855/jidc.20688

Keywords:

peripheral neuropathy, polymorphisms, thalidomide, leprosy, erythema nodosum leprosum

Abstract

Introduction: Erythema nodosum leprosum (ENL) is a humoral immune response to Mycobacterium leprae that is characterized by erythematous nodules, and may or may not be associated with systemic symptoms. Thalidomide is the primary treatment for ENL in Brazil, but peripheral neuropathy (PN) is a significant adverse effect. Genetic variants in SERPINB2 and PKNOX1 genes have been implicated in the predisposition to develop thalidomide-induced peripheral neuropathy (TiPN) in patients with multiple myeloma. This study evaluated the prevalence of the polymorphisms in SERPINB2 and PKNOX1 in ENL patients.

Methodology: A cross-sectional study was conducted in a sample of ENL patients from southern Brazil to assess the presence of genetic variants of SERPINB2 and PKNOX1.

Results: Forty-seven patients with ENL were included. The prevalence of SERPINB2 (rs6103) was 66% for the C allele and 34% for the G allele, and the prevalence of PKNOX1 (rs2839629) was 75% for the A allele and 25% for the G allele. There was significantly relevant presence of the PKNOX1 (rs2839629) A allele in patients with ENL (p < 0.001). In the case of patients with PN, the presence of the C genotype for rs6103 (SERPINB2) was 85% in homozygosity and 77.3% in heterozygosity; and the presence of the A genotype for rs2839629 (PKNOX1) was 84% in homozygosity and 80% in heterozygosity.

Conclusions: Polymorphisms in SERPINB2 and PKNOX1 were identified in patients with ENL, with emphasis on PKNOX1. If confirmed by more robust future studies, these findings may guide clinical decisions and treatment guidelines for ENL.

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Published

2025-07-28

How to Cite

Perazzoli S, Fiuza MF, de Moraes PC, Heck R, Vianna FS, Bonamigo RR (2025) Prevalence of genetic variants in SERPINB2 and PKNOX1 genes in erythema nodosum leprosum patients from southern Brazil. J Infect Dev Ctries 19:1083–1088. doi: 10.3855/jidc.20688

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Issue

Vol. 19 No. 07: July 2025

Section

Original Articles

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