Reliable and rapid characterization of functional <it>FCN2</it> gene variants reveals diverse geographical patterns

• Main Authors: Ojurongbe Olusola (Author), Ouf Eman (Author), Van Tong Hoang (Author), Toan Nguyen L (Author), Song Le H (Author), Luz Paola R (Author), Messias-Reason Iara JT (Author), Nurjadi Dennis (Author), Zanger Philipp (Author), Kun Jürgen FJ (Author), Kremsner Peter G (Author), Velavan Thirumalaisamy P (Author)
• Format: Book
• Published: BMC, 2012-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Ficolin-2 coded by <it>FCN2</it> gene is a soluble serum protein and an innate immune recognition element of the complement system. <it>FCN2</it> gene polymorphisms reveal distinct geographical patterns and are documented to alter serum ficolin levels and modulate disease susceptibility.</p> <p>Methods</p> <p>We employed a real-time PCR based on Fluorescence Resonance Energy Transfer (FRET) method to genotype four functional SNPs including <it>-986 G > A</it> (#rs3124952), <it>-602 G > A</it> (#rs3124953), <it>-4A > G</it> (#rs17514136) and <it>+6424 G > T</it> (#rs7851696) in the ficolin-2 (<it>FCN2)</it> gene. We characterized the <it>FCN2</it> variants in individuals representing Brazilian (n = 176), Nigerian (n = 180), Vietnamese (n = 172) and European Caucasian ethnicity (n = 165).</p> <p>Results</p> <p>We observed that the genotype distribution of three functional SNP variants (−<it>986 G > A, -602 G > A</it> and <it>-4A > G</it>) differ significantly between the populations investigated (<it>p</it> < 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 (<it>p</it> < 0.0001).</p> <p>Conclusions</p> <p>The observed distribution of the <it>FCN2</it> 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 <it>FCN2</it> gene will benefit a larger scientific community who extensively depend on rapid, reliable method for <it>FCN2</it> genotyping.</p>

Item Description

10.1186/1471-2350-13-37
1471-2350