Present address: Department of Research Affairs, Technology Transfer Office, Ghent University, Ghent, Belgium.
Extremes of l-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene
Version of Record online: 3 AUG 2007
Clinical & Experimental Immunology
Volume 150, Issue 1, pages 99–104, October 2007
How to Cite
Cedzynski, M., Nuytinck, L., Atkinson, A. P. M., St Swierzko, A., Zeman, K., Szemraj, J., Szala, A., Turner, M. L. and Kilpatrick, D. C. (2007), Extremes of l-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clinical & Experimental Immunology, 150: 99–104. doi: 10.1111/j.1365-2249.2007.03471.x
- Issue online: 3 AUG 2007
- Version of Record online: 3 AUG 2007
- Accepted for publication 20 June 2007
- innate immunity;
l-ficolin (also called ficolin-2, P35 or hucolin) is a soluble pattern recognition molecule of suspected importance in anti-microbial immunity. It activates the lectin pathway of complement and acts as an opsonin. l-ficolin, encoded by the FCN2 gene, recognizes microbial polysaccharides and glycoconjugates rich in GlcNAc or GalNAc. We report here data concerning four single nucleotide polymorphisms (SNPs) of the FCN2 gene and their relationship to l-ficolin serum concentrations. There are two pairs of SNPs in linkage disequilibrium: ss32469536 (located in promoter) with rs7851696 (in exon 8) and ss32469537 (promoter) with ss32469544 (exon 8). We selected groups possessing low or high serum l-ficolin concentrations (≤ 2·8 µg/ml or ≥ 4·5 µg/ml, respectively) from Polish children suffering from recurrent respiratory infections (n = 146). Low l-ficolin levels were associated with variant alleles for ss32469536 and rs7851696 and normal alleles for ss32469537 and ss32469544. Conversely, high l-ficolin levels were associated with variant alleles of ss32469537 and ss32469544. FCN2 genotyping should be a valuable additional tool for disease association studies.