HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus 
erythematosus in Guatemala

Barrios-Menéndez, Juan C.; Carías-Alvarado, César Camilo; Cayax, Lilian Isabel; López-Hun, Francisco; Santizo, Adolfo; Herrera, Maynor A.; Hernández-Zaragoza, Diana Iraíz; Escobar-Castro, Karla

doi:10.1016/j.humimm.2024.110803

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HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala

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Hernández-Zaragoza, Diana Iraíz
Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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引用

Barrios-Menéndez, J. C., Carías-Alvarado, C. C., Cayax, L. I., López-Hun, F., Santizo, A., Herrera, M. A., Hernández-Zaragoza, D. I., & Escobar-Castro, K. (2024). HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala. Human Immunology, 85(3):. doi:10.1016/j.humimm.2024.110803.

引用: https://hdl.handle.net/21.11116/0000-000F-3B7F-2

要旨

Systemic lupus erythematosus (SLE) is an autoimmune disorder that impacts connective tissue and can affect various organs and systems within the body. One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune response. Specifically, the HLA-DRB1 and HLA-DQB1 genes have been implicated in the development of SLE. In order to better understand this relationship in the Guatemalan population, a study was conducted with the objective of characterizing the allelic and haplotype profiles of the HLA-DQB1 and HLA-DRB1 loci in 50 patients diagnosed with SLE who were receiving treatment at a hospital in Guatemala. Allele and haplotype frequencies were determined and compared to 127 healthy Guatemalan subjects as a control group. The results of the analysis showed a reduction in the frequencies of HLA-DQB1*03 and HLA-DRB1*14 in SLE patients, which could suggest a protective effect on the development of the disease. In contrast, a risk association was found between HLA-DRB1*07, HLA-DRB1*08, HLA-DQB1*02 and HLA-DQB1*06 in SLE patients. Finally, we observed an additional protective associated of haplotype HLA-DRB1*04∼DQB1*03 with SLE patients, while haplotypes HLA-DRB1*07∼DQB1*02 and DRB1*08-DQB1*06 showed a risk association. © 2024