title: Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms.
abstract: L-ficolin (ficolin-2) is a complement-activating pattern-recognition lectin taking part in the innate immune response. Both its serum concentration and sugar binding capacity are influenced by single nucleotide polymorphisms (SNP) of the corresponding FCN2 gene. Cost-effective and simple procedures, based on polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism for an investigation of four FCN2 SNPs are proposed: -64 A > C (rs7865453), -4 A > G (rs17514136; both located in the promoter region), +6359 C > T (rs17549193), +6424 G > T (rs7851696; both in exon 8). Variant alleles of -64 and +6424 (in strong linkage disequlibrium) are known to be associated with low L-ficolin level or activity. In contrast, variant alleles at positions -4 and +6359 (also in strong linkage disequlibrium) correspond to higher values. Since several L-ficolin clinical associations have been reported, FCN2 genotyping seems to be a valuable tool for disease association studies.
authors.affiliation: Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szala
authors.forename: Anna
authors.initials: A
authors.lastname: St Swierzko
authors.forename: Maciej
authors.initials: M
authors.lastname: Cedzynski
mesh_terms: D000483:Alleles; D003362:Cost-Benefit Analysis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics* / Q000379:methods*; D005838:Genotype; D006801:Humans; D037102:Lectins / Q000235:genetics*; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D000097604:Ficolins
chemical_list: D037102:Lectins; D000097604:Ficolins