Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia.

Autor: de Oliveira LC; Postgraduate Program in Sciences Applied to Hematology, State University of Amazonas, Av. Djalma Batista, 3578-Flores, Manaus, AM, Brazil.; Society, Environment and Health Coordination, Virology and Immunology Laboratory, National Amazon Research Institute, Av. André Araújo, 2.936-Petrópolis, Manaus, AM, Brazil., de Souza PHR; Postgraduate Program in Sciences Applied to Hematology, State University of Amazonas, Av. Djalma Batista, 3578-Flores, Manaus, AM, Brazil.; Society, Environment and Health Coordination, Virology and Immunology Laboratory, National Amazon Research Institute, Av. André Araújo, 2.936-Petrópolis, Manaus, AM, Brazil., Barbosa AN; Society, Environment and Health Coordination, Virology and Immunology Laboratory, National Amazon Research Institute, Av. André Araújo, 2.936-Petrópolis, Manaus, AM, Brazil., Mineiro LS; Postgraduate Program in Sciences Applied to Hematology, State University of Amazonas, Av. Djalma Batista, 3578-Flores, Manaus, AM, Brazil.; Society, Environment and Health Coordination, Virology and Immunology Laboratory, National Amazon Research Institute, Av. André Araújo, 2.936-Petrópolis, Manaus, AM, Brazil., Pontes GS; Postgraduate Program in Sciences Applied to Hematology, State University of Amazonas, Av. Djalma Batista, 3578-Flores, Manaus, AM, Brazil. gemilson.pontes@inpa.gov.br.; Society, Environment and Health Coordination, Virology and Immunology Laboratory, National Amazon Research Institute, Av. André Araújo, 2.936-Petrópolis, Manaus, AM, Brazil. gemilson.pontes@inpa.gov.br.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 244. Date of Electronic Publication: 2025 Jan 02.
DOI: 10.1038/s41598-024-81971-1
Abstrakt: Polymorphisms in the MBL2 gene exon 1 can decrease serum levels of mannose-binding lectin (MBL), increasing the risk of infection in immunocompromised individuals. This study evaluated the association between the polymorphism in exon 1 of the MBL2 gene, genotypes, serum MBL levels, and infection in 122 patients with acute lymphoid leukemia (ALL). The MBL*A allele exhibited the highest frequency (0.37) within the study population. The MBL*D (0.32) was the predominant variant. The combined frequency of O polymorphic alleles (either B or D) was 0.63. The frequencies of the A/A, A/O and O/O genotypes were 0.13, 0.49 and 0.38, respectively. All patients exhibited consistently low levels of serum MBL, irrespective of their exon 1 genotype. Parasitic infections (n = 103), bacterial (n = 69) and viral (n = 48). A/O genotype (0.49) had higher infection rates, A/A (0.13) had lower rates, and O/O showed increased viral susceptibility (OR: 0.37; 95% CI 0.13-1.06; p = 0.05). Our findings demonstrated that the study population were MBL-deficient, regardless of their MLB2 genotype. Individuals with the A/O genotype had more infections, while those with the O/O genotype appeared more susceptible to viral infections. These findings highlight the impact of MBL levels and genetic variants on infection susceptibility in ALL patients.
Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Informed consent: Informed consent was obtained from all subjects involved in the study. Institutional review board statement: The study was approved by the Research Ethics Committee of HEMOAM under CAAE: 25710819.0.0000.0009, in accordance with the guidelines outlined in Resolution 466/2012 of the National Health Council (CNS) of Brazil.
(© 2024. The Author(s).)
Databáze: MEDLINE
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