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dc.contributor.authorBjarnadottir, Helga
dc.contributor.authorArnardottir, Margret
dc.contributor.authorLudviksson, Bjorn Runar
dc.date.accessioned2016-06-02T16:31:08Zen
dc.date.available2016-06-02T16:31:08Zen
dc.date.issued2016-05en
dc.date.submitted2016en
dc.identifier.citationFrequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes. 2016, 68 (5):315-25 Immunogeneticsen
dc.identifier.issn1432-1211en
dc.identifier.pmid26795763en
dc.identifier.doi10.1007/s00251-016-0903-4en
dc.identifier.urihttp://hdl.handle.net/2336/611596en
dc.descriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.en
dc.description.abstractThe six types of pattern recognition molecules (PRMs) that initiate complement via the lectin pathway (LP) comprise collectins and ficolins. The importance of having various PRMs to initiate the LP is currently unclear. Mannan-binding lectin (MBL) is a collectin member of the LP PRMs. MBL deficiency is common with mild clinical consequence. Thus, the lack of MBL may be compensated for by the other PRMs. We hypothesized that variants FCN2 + 6424 and FCN3 + 1637delC that cause gene-dose-dependent reduction in ficolin-2 and ficolin-3 levels, respectively, may be rare in MBL-deficient individuals due to the importance of compensation within the LP. The aim of this study was to investigate the distribution and frequency of these variants among MBL2 genotypes in healthy subjects. The allele frequency of FCN2 + 6424 and FCN3 + 1637delC was 0.099 and 0.015, respectively, in the cohort (n = 498). The frequency of FCN2 + 6424 tended to be lower among MBL-deficient subjects (n = 53) than among MBL-sufficient subjects (n = 445) (0.047 versus 0.106, P = 0.057). In addition, individuals who were homozygous for FCN2 + 6424 were sufficient MBL producers. The frequency of FCN3 + 1637delC did not differ between the groups. The frequency of FCN2 + 6424 was similar in FCN3 + 1637delC carriers (n = 15) versus wild type (n = 498). Furthermore, subjects that were heterozygote carriers of both FCN2 + 6424 and FCN3 + 1637delC were sufficient MBL producers. In conclusion, FCN2 + 6424 carriers with MBL deficiency tend to be rare among healthy individuals. MBL-deficient individuals with additional LP PRM defects may be at risk to morbidity.
dc.description.sponsorshipIcelandic Research Fund Unversity of Iceland Research Fund Landspitali University Hospital Research Funden
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://dx.doi.org/ 10.1007/s00251-016-0903-4en
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842218/en
dc.rightsArchived with thanks to Immunogeneticsen
dc.subjectNAF12
dc.subjectAAI12
dc.subject.meshMannose-Binding Lectinen
dc.titleFrequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes.en
dc.typeArticleen
dc.contributor.department[ 1 ] Landspitali Natl Univ Hosp Iceland, Dept Immunol, Hringbraut Bldg 14 Eiriksgata, IS-101 Reykjavik, Iceland, [ 2 ] Univ Iceland, Fac Med, Reykjavik, Icelanden
dc.identifier.journalImmunogeneticsen
dc.rights.accessOpen Access - Opinn aðganguren
refterms.dateFOA2018-09-12T15:58:46Z
html.description.abstractThe six types of pattern recognition molecules (PRMs) that initiate complement via the lectin pathway (LP) comprise collectins and ficolins. The importance of having various PRMs to initiate the LP is currently unclear. Mannan-binding lectin (MBL) is a collectin member of the LP PRMs. MBL deficiency is common with mild clinical consequence. Thus, the lack of MBL may be compensated for by the other PRMs. We hypothesized that variants FCN2 + 6424 and FCN3 + 1637delC that cause gene-dose-dependent reduction in ficolin-2 and ficolin-3 levels, respectively, may be rare in MBL-deficient individuals due to the importance of compensation within the LP. The aim of this study was to investigate the distribution and frequency of these variants among MBL2 genotypes in healthy subjects. The allele frequency of FCN2 + 6424 and FCN3 + 1637delC was 0.099 and 0.015, respectively, in the cohort (n = 498). The frequency of FCN2 + 6424 tended to be lower among MBL-deficient subjects (n = 53) than among MBL-sufficient subjects (n = 445) (0.047 versus 0.106, P = 0.057). In addition, individuals who were homozygous for FCN2 + 6424 were sufficient MBL producers. The frequency of FCN3 + 1637delC did not differ between the groups. The frequency of FCN2 + 6424 was similar in FCN3 + 1637delC carriers (n = 15) versus wild type (n = 498). Furthermore, subjects that were heterozygote carriers of both FCN2 + 6424 and FCN3 + 1637delC were sufficient MBL producers. In conclusion, FCN2 + 6424 carriers with MBL deficiency tend to be rare among healthy individuals. MBL-deficient individuals with additional LP PRM defects may be at risk to morbidity.


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