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Published on: February 23, 2014
Mannose-binding lectin gene, MBL2, polymorphisms are not associated with susceptibility to invasive pneumococcal
Lene Fogt Lundbo1, Zitta Barrella Harboe2, Louise Nygaard Clausen3
1Department of Infectious Diseases Clinical Research Centre, Hvidovre Hospital, University of Copenhagen, Hvidovre Faculty of Health Sciences, University of Copenhagen, Copenhagen.
Insights
Genetic variations in the mannose-binding lectin gene (MBL2) do not increase the risk of invasive pneumococcal disease (IPD) in young children. This study found no link between MBL2 diplotypes and IPD susceptibility or severity.
Area of Science:
- Immunogenetics
- Pediatric Infectious Diseases
- Microbial Pathogenesis
Background:
- Invasive pneumococcal disease (IPD) is a significant threat to children, despite Streptococcus pneumoniae colonization being common.
- Host genetic factors, particularly in innate immunity, may influence IPD susceptibility.
- The mannose-binding lectin gene (MBL2) plays a role in innate immunity and was investigated for its potential link to IPD.
Purpose of the Study:
- To investigate the association between genetic variations in the MBL2 gene and the risk of developing IPD in children under 5 years old.
- To determine if MBL2 diplotypes influence disease severity, specific pneumococcal serotypes, or outcomes in pediatric IPD cases.
- To analyze the impact of MBL2 polymorphisms on susceptibility to IPD in a Northern European cohort.
Main Methods:
- Case-control study utilizing national IPD registries and the Danish Neonatal Screening Biobank for DNA.
- Logistic regression analysis was employed to assess associations between MBL2 diplotypes and IPD susceptibility, serotypes, and outcomes.
- Pneumococcal serotypes were identified using the Quellung reaction, and MBL2 diplotypes were assigned through genotyping.
Main Results:
- No increased risk of meningitis or bacteremia was observed in children with defective MBL2 diplotypes compared to controls (ORs ranging from 0.85 to 0.89).
- Susceptibility to recurrent IPD, mortality, and specific pneumococcal serotypes showed no significant association with MBL2 diplotypes.
- Analysis included 372 meningitis cases, 907 bacteremia cases, and 1263 controls, with 2372 individuals successfully genotyped.
Conclusions:
- Defective MBL2 polymorphisms do not appear to be a significant predictor of increased IPD susceptibility in children from Northern Europe.
- The study suggests that MBL2 genetic variation is unlikely to be a major determinant for developing invasive pneumococcal disease in this population.
- Further research may explore other host genetic factors contributing to IPD risk in children.
Background:
Most children are transiently colonized with Streptococcus pneumoniae, but very few develop invasive pneumococcal disease (IPD). Host genetic variation of innate immunity may predispose to IPD. We investigated the effect of genetic variation in the mannose-binding lectin gene, MBL2, on susceptibility and disease severity of IPD in previously healthy children aged <5 years.
Methods:
IPD cases were identified through national registries. DNA was obtained from the Danish Neonatal Screening Biobank. Pneumococcal serotypes were determined by Quellung reaction. The associations between MBL2 diplotypes and IPD susceptibility, serotypes, and outcome were investigated using logistic regression analysis.
Results:
We included 372 cases with meningitis, 907 with bacteremia, and 1263 age- and sex-matched controls; 2372 individuals were successfully genotyped and assigned MBL2 diplotypes. The median age in our combined case series was 13 months. Children with defective diplotypes were not at higher risk for meningitis than children with other diplotypes (odds ratio [OR], 0.85; 95% confidence interval [CI], .56-1.28). Similar results were found for bacteremia (OR, 0.89; 95% CI, .68-1.15) as well as for all cases (OR, 0.87; 95% CI, .70-1.09). There was no association with susceptibility to recurrent IPD (n = 12) for children with defective diplotypes compared with cases with a single episode (OR, 0.53; 95% CI, .07-4.13) and with all controls (OR, 0.46; 95% CI, .06-3.56). There was no association between diplotypes and mortality or between diplotypes and pneumococcal serotypes.
Conclusions:
Defective MBL2 polymorphisms did not predict increased IPD susceptibility in children born in Northern Europe.
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