Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia
Abstract 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 infe...
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2025-01-01
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| author | Leonardo Calheiros de Oliveira Paulo Henrique Rodrigues de Souza Anderson Nogueira Barbosa Luma Silva Mineiro Gemilson Soares Pontes |
| author_facet | Leonardo Calheiros de Oliveira Paulo Henrique Rodrigues de Souza Anderson Nogueira Barbosa Luma Silva Mineiro Gemilson Soares Pontes |
| author_sort | Leonardo Calheiros de Oliveira |
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| description | Abstract 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. |
| format | Article |
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| institution | Kabale University |
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| language | English |
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| spelling | doaj-art-344337fdc72742d2adb779f76f9605aa2025-01-05T12:21:33ZengNature PortfolioScientific Reports2045-23222025-01-011511910.1038/s41598-024-81971-1Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemiaLeonardo Calheiros de Oliveira0Paulo Henrique Rodrigues de Souza1Anderson Nogueira Barbosa2Luma Silva Mineiro3Gemilson Soares Pontes4Postgraduate Program in Sciences Applied to Hematology, State University of AmazonasPostgraduate Program in Sciences Applied to Hematology, State University of AmazonasSociety, Environment and Health Coordination, Virology and Immunology Laboratory, National Amazon Research InstitutePostgraduate Program in Sciences Applied to Hematology, State University of AmazonasPostgraduate Program in Sciences Applied to Hematology, State University of AmazonasAbstract 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.https://doi.org/10.1038/s41598-024-81971-1Mannose-binding lectinPolymorphismSusceptibilityAcute lymphoid leukemiaInfectious diseases |
| spellingShingle | Leonardo Calheiros de Oliveira Paulo Henrique Rodrigues de Souza Anderson Nogueira Barbosa Luma Silva Mineiro Gemilson Soares Pontes Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia Scientific Reports Mannose-binding lectin Polymorphism Susceptibility Acute lymphoid leukemia Infectious diseases |
| title | Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia |
| title_full | Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia |
| title_fullStr | Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia |
| title_full_unstemmed | Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia |
| title_short | Impact of Exon 1 polymorphism in the MBL2 gene on MBL serum levels and infection susceptibility in acute lymphoid leukemia |
| title_sort | impact of exon 1 polymorphism in the mbl2 gene on mbl serum levels and infection susceptibility in acute lymphoid leukemia |
| topic | Mannose-binding lectin Polymorphism Susceptibility Acute lymphoid leukemia Infectious diseases |
| url | https://doi.org/10.1038/s41598-024-81971-1 |
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