Extremes of l‐ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene

• Published in: Clinical and experimental immunology Vol. 150; no. 1; pp. 99 - 104
• Main Authors: Cedzynski, M., Nuytinck, L., Atkinson, A. P. M., St Swierzko, A., Zeman, K., Szemraj, J., Szala, A., Turner, M. L., Kilpatrick, D. C.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.10.2007; Blackwell; Blackwell Science Inc
• Subjects: Adolescent; Analytical, structural and metabolic biochemistry; Biological and medical sciences; Child; Child, Preschool; FCN2; Ficolins; Fundamental and applied biological sciences. Psychology; Genetic Predisposition to Disease; Genotype; Humans; Immunity, Innate - genetics; Infant; infection; innate immunity; Lectins - blood; Lectins - genetics; l‐ficolin; Molecular and cellular biology; Molecular biophysics; polymorphism; Polymorphism, Single Nucleotide; Recurrence; Respiratory Tract Infections - genetics; Respiratory Tract Infections - immunology; Translational Studies; Human; FCN2; Relapse; Genetic variability; Genotype; Natural immunity; Biochemistry; Ficolin; polymorphism; Biophysics; Concentration; Infection; Association; Gene; L-ficolin; innate immunity; Genetics; Single nucleotide polymorphism; Molecular biology; Child
• ISSN: 0009-9104; 1365-2249
• DOI: 10.1111/j.1365-2249.2007.03471.x

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 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.