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

Sci Rep. 2025 Jan 2;15(1):244. doi: 10.1038/s41598-024-81971-1.

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.

Keywords: Acute lymphoid leukemia; Infectious diseases; Mannose-binding lectin; Polymorphism; Susceptibility.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Child
  • Exons* / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Mannose-Binding Lectin* / blood
  • Mannose-Binding Lectin* / genetics
  • Middle Aged
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / blood
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / genetics
  • Young Adult

Substances

  • Mannose-Binding Lectin
  • MBL2 protein, human