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Open Access Research article

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

Olusola Ojurongbe12, Eman Abou Ouf1, Hoang Van Tong1, Nguyen L Toan3, Le H Song4, Paola R Luz5, Iara JT Messias-Reason5, Dennis Nurjadi1, Philipp Zanger1, Jürgen FJ Kun1, Peter G Kremsner1 and Thirumalaisamy P Velavan1*

Author Affiliations

1 Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany

2 Ladoke Akintola University of Technology, Ogbomoso, Nigeria

3 Department of Pathophysiology, Vietnam Military Medical University, Hanoi, Vietnam

4 Tran Hung Dao Hospital, Hanoi, Vietnam

5 Laboratório de Imunopatologia Molecular-Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil

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BMC Medical Genetics 2012, 13:37  doi:10.1186/1471-2350-13-37

Published: 17 May 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.

Keywords:
FRET; Ficolin-2; Genotypes; Haplotypes; Distribution