title: The relationship between FCN2 genotypes and serum ficolin-2 (L-ficolin) protein concentrations from a large cohort of neonates.
abstract: The human FCN2 gene codes for ficolin-2 (L-ficolin), a major pattern recognition molecule and activator of the lectin pathway of complement. Seven single nucleotide polymorphisms of this gene were investigated in a large series of cord blood DNA samples. Mutations from the majority to the minority alleles at -602, -4 and +6359 were associated with an increase, while mutations at -986, -557, -64 and +6424 were associated with a decrease, in protein concentration. Full (7 loci) genotypes were obtained for 1229 unrelated neonates, 12 sets of twin siblings and one set of triplets. Forty-four separate genotypes were detected. Four genotypes accounted for more than half the unrelated neonates, and >90% had one of the 12 commonest genotypes. Genotypes were associated with significant differences in mean serum ficolin-2, but the intra-genotype concentration ranges were large and greater than the inter-genotype differences. Consequently, there were no associations between genotypes and low birthweight babies or perinatal infections, and only a weak relationship with preterm deliveries, despite all three adverse pregnancy features being significantly associated with serum ficolin-2 protein. FCN2 genotyping may be of value in clinical studies, but not as a substitute for total serum ficolin-2 protein measurement.
authors.affiliation: Scottish National Blood Transfusion Service, National Science Laboratory, Edinburgh, Scotland, UK.
authors.forename: David C
authors.initials: DC
authors.lastname: Kilpatrick
authors.forename: Anna
authors.initials: A
authors.lastname: St Swierzko
authors.forename: Misao
authors.initials: M
authors.lastname: Matsushita
authors.forename: Iwona
authors.initials: I
authors.lastname: Domzalska-Popadiuk
authors.forename: Monika
authors.initials: M
authors.lastname: Borkowska-Klos
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szczapa
authors.forename: Maciej
authors.initials: M
authors.lastname: Cedzynski
mesh_terms: D037582:Complement Pathway, Mannose-Binding Lectin / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007239:Infections / Q000175:diagnosis / Q000235:genetics*; D007743:Labor, Obstetric / Q000235:genetics; D037102:Lectins / Q000097:blood* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D047928:Premature Birth / Q000175:diagnosis / Q000235:genetics*; D014310:Triplets; D014427:Twins; D000097604:Ficolins
chemical_list: D037102:Lectins; D000097604:Ficolins