The relationship between FCN2 genotypes and serum ficolin-2 (L-ficolin) protein concentrations from a large cohort of neonates

Kilpatrick, David C.; Świerzko, Anna St.; Matsushita, Misao; Domżalska-Popadiuk, Iwona; Borkowska-Klos, Monika; Szczapa, Jerzy; Cedzyński, Maciej

doi:10.1016/j.humimm.2013.04.011

Cited by 26 publications

(39 citation statements)

References 13 publications

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“…Inversely, the GG genotype at À986A>G (rs3124952) and the minor TT genotype þ6424G>T (Ala258Ser, rs7851696 in exon 8) are associated with decreased concentration. Similar results are reported in a cohort of neonates (Cedzynski et al, 2007;Kilpatrick et al, 2013), where, in addition to the above results, the minor genotype TT at þ6359C>T (Thr236Met, rs17549193 in exon 8) is associated with the increased serum concentration, and the minor GG genotype at À557A>G (rs3811140) and the minor CC genotype at À64A>C (rs28969369) are associated with decreased concentration. When the binding activity of ficolin-2 to GlcNAc was assessed, decreased activity was observed in the variant with Thr236Met, and inversely increased activity was found in the variant with Ala258Ser (Hummelshoj et al, 2005).…”

Section: Gene Polymorphisms Serum Concentrations Of Ficolins and Thesupporting

confidence: 88%

New Insights into the Role of Ficolins in the Lectin Pathway of Innate Immunity

Endo

Matsushita

Fujita

2015

International Review of Cell and Molecular Biology

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Section: Gene Polymorphisms Serum Concentrations Of Ficolins and Thesupporting

confidence: 88%

New Insights into the Role of Ficolins in the Lectin Pathway of Innate Immunity

Endo

Matsushita

Fujita

2015

International Review of Cell and Molecular Biology

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“…However, taking into consideration the notion that FCN2 genotypes are not ideal predictors of circulating ficolin-2 protein [Kilpatrick et al, 2013], further studies on larger populations, aimed also at measuring the ficolin-2 concentration, are necessary to exclude (or confirm) the potential involvement of ficolin-2 in disease susceptibility/severity. …”

Section: Discussionmentioning

confidence: 99%

“…Three SNPs in the promoter region of the FCN2 gene (at positions -986, -602, and -4) are associated with variation in serum concentration of ficolin-2 [Hummelshøj et al, 2005;Garred et al, 2010]. It has been demonstrated that the genotype-phenotype relationship for ficolin-2 is gene dose-dependent, with the GG genotype of -986A>G, GG genotype of -602G>A, and AA genotype of -4A>G FCN2 SNPs being related to low levels of ficolin-2 in serum [Kilpatrick et al, 2013].…”

mentioning

confidence: 99%

The Lack of Association between <b><i>FCN2</i></b> Gene Promoter Region Polymorphisms and Dental Caries in Polish Children

Olszowski

Milona²,

Janiszewska‐Olszowska³

et al. 2017

Caries Res

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The aim of this study was to examine the association of single-nucleotide polymorphisms (SNPs) in the gene encoding ficolin-2 protein (FCN2 gene) at positions -986 (rs17514136), -602 (rs3124953), and -4 (rs3124952) with dental caries in Polish children. Two hundred and sixty Polish Caucasian children aged 15 years were enrolled in this study: 82 with “higher” caries experience (DMFT >5) and 178 with “lower” caries experience (DMFT ≤5). In addition, subjects with caries experience (DMFT ≥1) and caries-free subjects (DMFT = 0) were compared. FCN2 SNPs were genotyped with PCR-RFLP methods. There were no significant differences in the genotype, allele, or haplotype distributions in 3 analyzed SNPs of the FCN2 gene between children with “higher” and those with “lower” caries experience as well as between children with caries experience and caries-free children. In conclusion, we did not find any association of FCN2 promoter polymorphisms at positions -986, -602, and -4 with dental caries in Polish children.

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“…Notably, almost a third of the population worldwide displays moderate to severe MBL deficiency [13]. Similarly, a number of major polymorphisms have been described for the ficolin-2 gene ( FCN2 ) with a much weaker genotypic/phenotypic relationship than is the case for MBL [14]. …”

Section: Introductionmentioning

confidence: 99%

Mannose-binding lectin and ficolin-2 do not influence humoral immune response to hepatitis B vaccine

Osthoff

Irungu

Ngure

et al. 2014

Vaccine

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Background Host genetics appear to be an important factor in the failure to generate a protective immune response after hepatitis B (HBV) vaccination. Mannose-binding lectin (MBL) and ficolin-2 (FCN2), two pattern recognition receptors of the lectin pathway of complement, influence the clinical outcome of HBV, and MBL deficiency has been shown to augment the humoral response to HBV vaccination in several experimental models. Here, we investigated the association of MBL and FCN2 with the humoral response to HBV vaccination in a candidate gene and functional study. Patients and methods A post hoc analysis of a prospective, interventional HBV vaccination study among human immunodeficiency virus type 1 (HIV-1) uninfected individuals in Kenya was conducted. Serum levels and polymorphisms of MBL and FCN2 were analysed in relation to the immune response to HBV vaccination. Results Protective hepatitis B surface antibody levels (≥10 mIU/ml) were evident in 251/293 (85.7%) individuals. Median MBL and FCN2 levels were similar in responders vs. non-responders with a weak trend towards lower median MBL levels in non-responders (1.0 vs. 1.6 μg/ml, p=0.1). Similarly, there was no difference in four MBL and six FCN2 polymorphisms analysed in the two groups with the exception of an increased frequency of a homozygous MBL codon 57 mutation in non-responders (4 (9.5%) vs. 8 (3.2%), p=0.05) corresponding to lower MBL levels. Results were similar after adjusting for age and sex. Conclusions Our study does not support a prominent role of the lectin pathway of complement in general and MBL and FCN2 in particular in the humoral immune response to HBV vaccination in African adults.

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The relationship between FCN2 genotypes and serum ficolin-2 (L-ficolin) protein concentrations from a large cohort of neonates

Cited by 26 publications

References 13 publications

New Insights into the Role of Ficolins in the Lectin Pathway of Innate Immunity

New Insights into the Role of Ficolins in the Lectin Pathway of Innate Immunity

The Lack of Association between <b><i>FCN2</i></b> Gene Promoter Region Polymorphisms and Dental Caries in Polish Children

Mannose-binding lectin and ficolin-2 do not influence humoral immune response to hepatitis B vaccine

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