Influence of Genetic Variants of the TLR7 Gene on the Pathophysiology of Systemic Lupus Erythematosus

Authors

DOI:

10.52832/jormed.v2.460

Keywords:

Genetics, Systemic Lupus Erythematosus, TLR7, Variants, Treatments

Abstract

Introduction: The TLR7 gene encodes the TLR7 protein, which is essential for recognizing pathogens and activating pro-inflammatory factors. Its deregulation is associated with Systemic Lupus Erythematosus (SLE), an autoimmune disease characterized by the deposition of immune complexes in tissues. Objective: To analyze TLR7 genetic variants and their pathophysiological and therapeutic implications in SLE. Methods: This is an integrative literature review. The articles were collected from the PubMed, Virtual Health Library (VHL) and Scientific Electronic Library Online (SciELO) databases, using the descriptors “TLR7”, “TLR”, “Autoimmune Diseases”, “Lupus”, “Systemic Lupus Erythematosus”, “Treatments”, “Gain Of Function” and “Polymorphism”, consulted in the Health Sciences Descriptors (Decs). The inclusion criteria were articles dated from 2014 to 2024, in Portuguese or English, available free of charge. Exclusion criteria were articles not related to TLR7 and its expression in SLE. Results: The literature shows that gain-of-function variants in addition to activating the TLR7 protein are related to neurological damage. Searches for significant SNPs showed that rs3853839, its genotypes and alleles, not only correlated with the development of the disease, but also showed an association with TLR7-related components and clinical signs of SLE. Conclusion: The genetic variants detected in TLR7 were consistently linked to SLE susceptibility in different populations around the world. In particular, rs3853839 emerged as a crucial marker in this context. These findings highlight potential therapeutic targets and biomarkers for SLE.

Author Biographies

Tereza Raquel Xavier Viana, Universidade Federal de São Paulo (UNIFESP), Faculdade de Medicina de Jundiaí (FMJ) e Centro Universitário Nossa Senhora do Patrocínio (Ceunsp)

Mestranda em Ciências da Saúde na Faculdade de Medicina de Jundiaí (FMJ), com previsão de conclusão em 2025. Graduada em Gestão de Marketing pela Universidade Nove de Julho (UNINOVE), com pós-graduação em Neurociências pela Faculdade Venda Nova do Imigrante (Faveni), e especializações em Cannabis Medicinal pela Doane University (EUA), e Auditoria em Sistemas de Saúde e Administração Hospitalar pela Faculdade de São Marcos (FACSM). Cursando uma segunda especialização em Neurociências pela Universidade Federal de São Paulo (UNIFESP) e Gerontologia pelo Centro Universitário Internacional (UNINTER), com conclusão prevista em 2024. Simultaneamente, busca segunda graduação em Biomedicina no Centro Universitário Nossa Senhora do Patrocínio (CEUNSP - ITU), com término previsto para 2025. Além disso, possui extensão em Neuroanatomia pela Universidade de São Paulo (FMRP-USP). Associada à Sociedade Brasileira de Neurociências e Comportamento (SBNeC), com filiação à FeSBE, SBPC, IBRO e FALAN, bem como à Sociedade Brasileira de Geriatria e Gerontologia (SBGG).

Luana Brilhante de Sousa, Universidade Paulista (UNIP)

Graduanda em Biomedicina, Universidade Paulista (UNIP)

Larissa Teodoro Rabi, Centro Universitário Nossa Senhora do Patrocínio (CEUNSP), Itu-SP, Brasil

Biomédica habilitada em Biologia Molecular, Análises Clínicas, Hematologia, Imunologia e Citologia Oncótica. Mestre em Ciências pelo Departamento de Clínica Médica da Universidade Estadual de Campinas (UNICAMP). Docente do Curso de Biomedicina do Centro Universitário Nossa Senhora do Patrocínio (CEUNSP/Cruzeiro do Sul).

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Published

2024-09-12

How to Cite

Viana, T. R. X., Brilhante de Sousa, L., & Teodoro Rabi, L. (2024). Influence of Genetic Variants of the TLR7 Gene on the Pathophysiology of Systemic Lupus Erythematosus. Journal of Research in Medicine and Health, 2. https://doi.org/10.52832/jormed.v2.460

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Vol. 2 (2024): JORMED

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Artigo de Revisão

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