Do You Know How You’ll Respond to Thiopurine Medications?

Some of the more common thiopurine drugs: 6-Thioguanine (Lanvis ®) 6-Mercaptopurine (Purinethol ®) Azathioprine (Azasan ®, Imuran ®)

You may lack the enzyme thiopurine methyltransferase (TPMT) and not even know it.  For most of those who lack the enzyme, it will never be a problem, but, for those who are prescribed thiopurine medication, the lack of functional TPMT enzyme could lead to serious side effects. Thiopurines are a family of drugs that are used to “turn down” or suppress the immune system, which can be useful when you want to reduce inflammation, for instance. They’re used in a variety of treatments for such conditions as leukemia, organ transplant rejection, rheumatoid arthritis, Crohn’s disease, and inflammatory bowel disease. While these are important drugs for many individuals, for those who lack functional TPMT enzyme, thiopurines cause serious side effects, such as bleeding and low blood count.  Because of these potential side effects, a doctor can test for TPMT enzyme activity before prescribing thiopurine drugs, but a test isn’t always done. There are a couple of different types of tests available.  One type of test looks at the levels of TPMT enzyme directly.  Another type of test looks for mutations in the gene that encodes the TPMT enzyme.  Approximately 10 percent of people with European ancestry have reduced TPMT activity due to having inherited one mutant TPMT gene. About 0.3 percent have none at all due to having inherited two mutant copies.
Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.
  • Steven

    Can 23andme determine:

    “Several years ago ago, scientists discovered that a gene called ABCC11 determined whether people produced wet or dry earwax. Interestingly, people who produce the “dry” version of earwax also lack a chemical in their armpits that bacteria feed on to cause underarm odor.

    “This key gene is basically the single determinant of whether you do produce underarm odor or not,” Day said.

    While only 2 percent of Europeans lack the genes for smelly armpits, most East Asians and almost all Koreans lack this gene, Day told LiveScience.

    No one knows exactly why gene prevalence varies so much between populations, but its absence in East Asia suggests that being stinky was evolutionarily selected against there over the last several thousand years, he said.”