Polymorphisms in the mannan-binding lectin gene are not associated with questionnaire-reported respiratory tract

Jopje M Ruskamp1, Maarten O Hoekstra, Dirkje S Postma

  • 1Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, University of Utrecht, Lundlaan 6, Utrecht, The Netherlands. j.ruskamp@umcutrecht.nl

Abstract

Insights

Low mannan-binding lectin (MBL) levels, influenced by MBL2 gene variations, are not linked to increased respiratory tract infection (RTI) frequency in Dutch children. This study found no population-level association between MBL2 polymorphisms and RTI risk.

Area of Science:

  • Immunogenetics
  • Pediatric Infectious Diseases
  • Human Genetics

Background:

  • Low mannan-binding lectin (MBL) levels, often due to MBL2 polymorphisms, are hypothesized to increase susceptibility to respiratory tract infections (RTIs), especially in early childhood.
  • Replication of these associations in large cohorts is crucial for validation.

Purpose of the Study:

  • To investigate the association between MBL2 polymorphisms and the frequency of RTIs in a large, population-based cohort of white children.
  • To determine if specific MBL2 genotypes or haplotypes correlate with RTI incidence from birth to four years of age.

Main Methods:

  • Prospective assessment of RTI frequency via annual parental questionnaires until age 4 in 987 Dutch children.
  • Determination of 13 MBL2 polymorphisms and construction of haplotypes associated with MBL functional levels.
  • Analysis of associations between MBL2 genotypes/haplotypes and RTI frequency in the first, second, and first four years of life.

Main Results:

  • No significant differences in polymorphism or haplotype frequencies were observed between children with varying RTI frequencies.
  • Deficient MBL2 genotypes did not demonstrate an increased risk for RTIs during the first four years of life (OR, 0.71; 95% CI, 0.25 to 2.05).
  • This lack of association held true when analyzing the first and second years of life separately.

Conclusions:

  • MBL2 polymorphisms do not appear to contribute to the risk of questionnaire-reported RTIs in white children at the population level.
  • The findings suggest that genetic variations in MBL2 may not be a significant factor in determining RTI susceptibility in this demographic.