Monday, December 21, 2009

Finally, I initiated my blog on variation within the human genome. This is something I have wanted to do for a long time.

Other genomes will be discussed as well. I use Twitter a couple/few times a day, but this space will be used for longer posts and more detail. I will give my own thoughts and opinions and will not disclose the sensitive aspects of the research for which I am paid.

OK, on to the science. Today, I began to read a very interesting article in Nature on a risk SNP for type 2 diabetes in which the paternal risk allele confers ~30% increased risk of T2DM while the maternal version of that same allele confers ~10% decreased risk. Furthermore, the C/T SNP alters a methylation-sensitive transcription factor binding site. This may help explain some of the missing heritability not observed in many genome-wide association studies (GWAS) and others of a smaller scale. The paper is by Kong, Steinthorsdottir, et al. (2009, Nature 462:868 (www.nature.com/nature/journal/v462/n7275/abs/nature08625.html)).

This is neat stuff, deserving of more thought.