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

Szala, Agnieszka; Świerzko, Anna St.; Cedzyński, Maciej

doi:10.1007/s00251-013-0696-7

Cited by 13 publications

(10 citation statements)

References 19 publications

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“…SNPs of MBL2 (mannose‐binding lectin), 44 FCN2 (ficolin‐2), 45 , 46 FCN3 (ficolin‐3) 47 and MASP2 (MASP‐2) 48 genes were investigated with the use of PCR‐restriction fragment length polymorphism or allele‐specific PCR methods, essentially as described previously. In the case of the MBL2 gene, SNPs −550 C>G (referred as H/L, rs11003125), −221 C>G (Y/X, rs7096206) (both located in the promoter), as well as +223 C>T (codon 52, A/D, rs5030737), +230 G>A (codon 54, A/B, rs1800450) and +239 G>A (codon 57, A/C, rs1800451) (all in exon 1) were analyzed.…”

Section: Methodsmentioning

confidence: 99%

“…O/O and LXA/O genotypes (where ‘O’ collectively describes B, C and D) were considered as associated with MBL deficiency. For the FCN2 gene, promoter polymorphisms (all affecting serum concentration of ficolin‐2), at positions −986 (A>G, rs3124952), 46 −602 (G>A, rs3124953), 46 −64 (A>C, rs7865453) 45 and −4 (A>G, rs17514136) 45 were studied. In addition, the presence of +1637delC (exon 5 of the FCN3 gene, rs28357092) and +359 A>G (exon 3 of the MASP2 gene, rs72550870) mutations were tested.…”

Section: Methodsmentioning

confidence: 99%

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Lectin pathway factors in patients suffering from juvenile idiopathic arthritis

et al. 2017

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Both complement activation and certain infections (including those with Yersinia sp.) may contribute to the pathogenesis of juvenile idiopathic arthritis (JIA). We investigated factors specific for the lectin pathway of complement: mannose-binding lectin (MBL), ficolins and MBL-associated serine protease-2 (MASP-2), in 144 patients and 98 controls. One hundred and six patients had oligoarticular disease and 38 had polyarticular disease. In 51 patients (out of 133 tested), Yersinia-reactive antibodies were found (JIA Ye group). MBL deficiency was significantly more frequent in the JIA Ye group than in patients without Yersinia-reactive antibodies or in controls. Median serum ficolin-2 level was significantly lower (and proportion of values deemed ficolin-2 insufficient greater) in JIA patients irrespective of their Yersinia antibody status. The minority (C) allele at -64 of the FCN2 gene was less frequent among JIA patients than among control subjects. No differences were found in the frequency of FCN3 gene +1637delC or MASP2 +359 A>G mutations nor for median values of serum ficolin-1, ficolin-3 or MASP-2. However, high levels of serum ficolin-3 were under-represented in patients, in contrast to MBL. MBL, ficolin-1, ficolin-2, ficolin-3 and MASP-2 were also readily detectable in synovial fluid samples but at a considerably lower level than in serum. Our findings suggest a possible role for the lectin pathway in the pathogenesis of JIA, perhaps secondary to a role in host defence, and indicate that investigations on the specificity of lectin pathway recognition molecules towards specific infectious agents in JIA might be fruitful.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Lectin pathway factors in patients suffering from juvenile idiopathic arthritis

et al. 2017

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“…A real-time polymerase chain reaction (PCR) with subsequent melting curve ( T m ) analysis on amplicons was used to detect functional variants (rs1800450, rs1800451, rs5030737) in exon 1 and promoter (rs7096206) of the MBL2 gene with the LightCycler Instrument (Roche Diagnostics) using a previously described method (Steffensen et al 2003 ). FCN2 genotyping was carried out using a sequence-specific primer PCR (SSP-PCR) to detect the functional variant (rs7851696) in exon 8 (Szala et al 2013 ). Restriction fragment length polymorphism PCR (RFLP-PCR) was used to detect the base deletion 1637delC (rs28357092) in the FCN3 gene (Michalski et al 2011 ).…”

Section: Methodsmentioning

confidence: 99%

Frequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes

2016

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The 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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“…Single nucleotide polymorphisms of the FCN2 gene were analysed as recently described by Szala et al [22]. Briefly, polymorphisms at positions −64 (A>C), +6359 (C>T) and +6424 (G>T) were investigated with the use of PCR employing allele-specific primers.…”

Section: Methodsmentioning

confidence: 99%

Ficolin-2 and ficolin-3 in women with malignant and benign ovarian tumours

Szala

Sawicki

Świerzko

et al. 2013

Cancer Immunol Immunother

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Ficolins are serum pattern recognition molecules. They have opsonic properties and are able to activate complement via the lectin pathway. This paper reports investigations concerning ficolin-2 and ficolin-3 in ovarian cancer (OC). Their serum levels, single nucleotide polymorphisms of the corresponding FCN2 and FCN3 genes and specific mRNA expression in ovarian sections were investigated in 128 patients suffering from primary OC and 197 controls operated on for reasons other than malignancies. The latter consisted of two reference groups: those with benign tumours (n = 123) and those with normal ovaries (NO) (n = 74). Serum ficolin-2 and ficolin-3 concentrations were higher among patients with malignant disease when compared with either of the reference groups. A significant correlation between ficolin-2 and ficolin-3 concentrations was found, while no correlations with CA125 antigen or CRP were observed. No differences in the frequency of single nucleotide polymorphisms at sites −64, −4 (promoter), +6359, or +6424 (exon 8) (FCN2 gene) nor in the frame-shift mutation 1637delC (FCN3 gene) were found between investigated groups. In contrast to serum concentrations, the expression of FCN2 gene (reported for the first time in ovarian sections) was significantly lower in women with OC in comparison with patients with NO but not with benign ovarian tumours. In case of FCN3 gene, its expression levels in OC group inversely correlated with serum ficolin-3 and were lower in comparison with controls.Electronic supplementary materialThe online version of this article (doi:10.1007/s00262-013-1445-3) contains supplementary material, which is available to authorized users.

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

Cited by 13 publications

References 19 publications

Lectin pathway factors in patients suffering from juvenile idiopathic arthritis

Lectin pathway factors in patients suffering from juvenile idiopathic arthritis

Frequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes

Ficolin-2 and ficolin-3 in women with malignant and benign ovarian tumours

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