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Structural gene variants in the porcine mannose-binding lectin 1 (MBL1) gene are associated with low serum MBL-A

Helle R Juul-Madsen1, Rikke M Kjærup, Charlotte Toft

  • 1Department of Animal Health and Bioscience, Faculty of Agricultural Sciences, University of Aarhus, Tjele, Denmark, Helle. JuulMadsen@agrsci.dk

Immunogenetics
|January 29, 2011
PubMed

Insights

Researchers identified single nucleotide polymorphisms (SNPs) in the porcine Mannose-binding lectin A (MBL-A) gene, finding one haplotype linked to low MBL-A serum levels. However, no correlation between MBL-A concentration and disease incidence was observed in pigs.

Area of Science:

  • Immunogenetics
  • Veterinary Medicine
  • Molecular Biology

Background:

  • Mannose-binding lectin (MBL) is crucial for innate immunity, activating complement to combat pathogens.
  • Human MBL deficiency increases susceptibility to infections, linked to genetic variations (SNPs) in MBL genes.
  • Porcine MBL-A plays a similar immune role, but its genetic variations and disease associations are less understood.

Purpose of the Study:

  • To identify single nucleotide polymorphisms (SNPs) in the porcine MBL-A gene.
  • To investigate the association of identified porcine MBL-A SNPs and haplotypes with MBL-A serum concentrations.
  • To explore the correlation between MBL-A serum concentration and disease incidence in commercial pig breeds.

Main Methods:

  • Sequencing of the porcine MBL-A gene to identify SNPs, categorizing them by location (exons/introns) and effect (synonymous/non-synonymous).
  • Haplotype analysis using sequence data from Duroc and Landrace pigs.
  • Quantification of MBL-A serum concentrations in large cohorts of Duroc and Landrace boars.
  • Statistical analysis to assess the association between MBL-A haplotypes, serum concentrations, and disease incidence.

Main Results:

  • Fourteen SNPs were identified in the porcine MBL-A gene, with eight in exons (four non-synonymous) and six in introns.
  • Four distinct haplotypes were found, with one associated with low MBL-A serum concentration.
  • Duroc boars exhibited a single MBL-A concentration population, while Landrace boars showed four distinct populations.
  • No significant association was found between MBL-A serum concentration and disease incidence in Landrace boars.

Conclusions:

  • Genetic variations in the porcine MBL-A gene exist and can influence serum MBL-A levels.
  • Specific MBL-A haplotypes may be linked to altered MBL-A concentrations in pigs.
  • Despite variations in MBL-A levels, this study did not find a direct correlation with disease incidence in the assessed pig populations.

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