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Emily Singer

A View from Emily Singer

Genetic Mutations of the Year

A website highlights common genetic variations that made a splash in 2009.

  • January 5, 2010

SNPedia, a wiki-based database of single nucleotide polymorphisms (SNPs), has created my favorite top 10 list yet–the best SNPs of 2009, ranked according to “an elusive and ultimately subjective combination of medical importance, statistical believability, and overall general interest.”

SNPs are common genetic variations that have been highly scrutinized in recent years for their link to disease. SPNedia has compiled information on each of these SNPs, allowing people to analyze their own genetic profile by running their SNP data through it. (Tech Review contributors David Ewing Duncan and Misha Angrist have both tried it out.)

Topping the list is rs4244285, a variation in the drug metabolizing gene, CYP2C19, which determines how well you can metabolize the antiplatelet drug Plavix and other drugs. I wrote about this SNP last month and new devices being developed to easily identify it in hospitals and doctor’s offices.

The list includes a number of other variations that affect metabolism of a number of drugs, such as warfarin, or the susceptibility to side effects from certain drugs, such as muscle pain or weakness associated with statins and liver toxicity linked to the antibiotic floxacillin.

Check out the full list here.

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