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Dr. Eman Abdelrahman Mohamed Abdelrahman Abou Ouf :: Publications:

Title:
Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns
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
Year: 2012
Keywords: Not Available
Journal: Not Available
Volume: Not Available
Issue: Not Available
Pages: Not Available
Publisher: Not Available
Local/International: International
Paper Link: Not Available
Full paper Not Available
Supplementary materials Not Available
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

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