de Oliveira Leonardo Calheiros, de Souza Paulo Henrique Rodrigues, Barbosa Anderson Nogueira, Mineiro Luma Silva, Pontes Gemilson Soares
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.
Sci Rep. 2025 Jan 2;15(1):244. doi: 10.1038/s41598-024-81971-1.
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 MBLA allele exhibited the highest frequency (0.37) within the study population. The MBLD (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.
甘露聚糖结合凝集素2（MBL2）基因外显子1的多态性可降低血清甘露糖结合凝集素（MBL）水平，增加免疫功能低下个体的感染风险。本研究评估了122例急性淋巴细胞白血病（ALL）患者中MBL2基因外显子1多态性、基因型、血清MBL水平与感染之间的关联。MBLA等位基因在研究人群中频率最高（0.37）。MBLD（0.32）是主要变异体。O多态性等位基因（B或D）的合并频率为0.63。A/A、A/O和O/O基因型的频率分别为0.13、0.49和0.38。所有患者的血清MBL水平均持续较低，无论其外显子1基因型如何。寄生虫感染（n = 103）、细菌感染（n = 69）和病毒感染（n = 48）。A/O基因型（0.49）感染率较高，A/A（0.13）感染率较低，O/O显示病毒易感性增加（OR：0.37；95%CI 0.13 - 1.06；p = 0.05）。我们的研究结果表明，无论其MLB2基因型如何，研究人群均存在MBL缺陷。A/O基因型个体感染更多，而O/O基因型个体似乎更易感染病毒。这些发现突出了MBL水平和基因变异对ALL患者感染易感性的影响。
