Staff Members - Benha University
Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns
• 2012
Publication Information
Authors
Olusola Ojurongbe1,2†, 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
Keywords
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Pages
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publication.type
International
Paper Link
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Supplementary Materials
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Abstract
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
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