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Open Access 01-12-2012 | Research article

Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns

Authors: Olusola Ojurongbe, Eman Abou Ouf, Hoang Van Tong, Nguyen L Toan, Le H Song, Paola R Luz, Iara JT Messias-Reason, Dennis Nurjadi, Philipp Zanger, Jürgen FJ Kun, Peter G Kremsner, Thirumalaisamy P Velavan

Published in: BMC Medical Genetics | Issue 1/2012

Abstract

Background

Ficolin-2 coded by FCN2 gene is a soluble serum protein and an innate immune recognition element of the complement system. FCN2 gene polymorphisms reveal distinct geographical patterns and are documented to alter serum ficolin levels and modulate disease susceptibility.

Methods

We employed a real-time PCR based on Fluorescence Resonance Energy Transfer (FRET) method to genotype four functional SNPs including -986 G > A (#rs3124952), -602 G > A (#rs3124953), -4A > G (#rs17514136) and +6424 G > T (#rs7851696) in the ficolin-2 (FCN2) gene. We characterized the FCN2 variants in individuals representing Brazilian (n = 176), Nigerian (n = 180), Vietnamese (n = 172) and European Caucasian ethnicity (n = 165).

Results

We observed that the genotype distribution of three functional SNP variants (−986 G > A, -602 G > A and -4A > G) differ significantly between the populations investigated (p < 0.0001). The SNP variants were highly linked to each other and revealed significant population patterns. Also the distribution of haplotypes revealed distinct geographical patterns (p < 0.0001).

Conclusions

The observed distribution of the FCN2 functional SNP variants may likely contribute to altered serum ficolin levels and this may depend on the different disease settings in world populations. To conclude, the use of FRET based real-time PCR especially for FCN2 gene will benefit a larger scientific community who extensively depend on rapid, reliable method for FCN2 genotyping.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/13/37/prepub

Title: Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns
Authors: Olusola Ojurongbe
Eman Abou Ouf
Hoang Van Tong
Nguyen L Toan
Le H Song
Paola R Luz
Iara JT Messias-Reason
Dennis Nurjadi
Philipp Zanger
Jürgen FJ Kun
Peter G Kremsner
Thirumalaisamy P Velavan
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-13-37

At a glance: The STEP trials

Springer Medicine

Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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