Most genetic variation occurs in regions of the genome that do not affect enzyme structure and thus will have little or no physiological effect. Examining genetic variations within the coding regions of enzyme genes provides an efficient strategy to identity SNPs that will affect function. SNPs that impact function are the best candidates for comprising enzyme activity and thus will most likely have clinical consequences. Unlike many of the genetic association studies published in the last few decades, a focus on functional variation identifies genetic associations with high statistical significance and reliability.
Scientists at UC Berkeley and VitaPath Genetics published recently on a unique property of SNPs in vitamin responsive genes by showing that their negative effects could be corrected vitamin supplementation1. In this study, we showed that common genetic variants in folate-dependent enzymes function substantially below their peak level; however; the function of these enzymes can be restored to their normal levels through supplementation with elevated doses of folate. The ability to correct – or remediate – the effect of functional variants is a unique characteristic of the vitamin-responsive genes with significant clinical potential.
1. Marini N. et al., (2008) Proc Natl Acad Sci USA 105:8055-8060
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