IngentaConnect Extremes ofl-ficolin concentration in children with recurrent inf...

Authors: Cedzynski, M.; Nuytinck, L.¹; Atkinson, A. P. M.²; St Swierzko, A.³; Zeman, K.; Szemraj, J.⁴; Szala, A.³; Turner, M. L.²; Kilpatrick, D. C.²

Source: Clinical & Experimental Immunology, Volume 150, Number 1, October 2007 , pp. 99-104(6)

Publisher: Blackwell Publishing

Abstract:

Summary

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 tol-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 seruml-ficolin concentrations (≤ 2·8 µg/ml or ≥ 4·5 µg/ml, respectively) from Polish children suffering from recurrent respiratory infections (n = 146). Lowl-ficolin levels were associated with variant alleles for ss32469536 and rs7851696 and normal alleles for ss32469537 and ss32469544. Conversely, highl-ficolin levels were associated with variant alleles of ss32469537 and ss32469544. FCN2 genotyping should be a valuable additional tool for disease association studies.

Keywords: FCN2; infection; innate immunity; l-ficolin; polymorphism

Document Type: Research article

DOI: 10.1111/j.1365-2249.2007.03471.x

Affiliations: 1: Innogenetics NV, Ghent, Belgium, 2: Scottish National Blood Transfusion Service, National Science Laboratory, Edinburgh, Scotland, UK, 3: Laboratory of Immunobiology of Infections, Centre of Medical Biology, Polish Academy of Sciences, Lodz, Poland, 4: Department of Biochemistry, Medical University of Lodz, Lodz, Poland

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Extremes ofl-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene