TITLE

Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms

AUTHOR(S)
Szala, Agnieszka; St. Swierzko, Anna; Cedzynski, Maciej
PUB. DATE
June 2013
SOURCE
Immunogenetics;Jun2013, Vol. 65 Issue 6, p439
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
87551573

 

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