Promethease: Vitamin A, Folate, and other fun with genes


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Welcome to the site! This content is old and may not reflect my current opinions. I keep it up mainly for reference and because I hope at least some of it is still good, but I encourage you to check out more recent posts as well as my Start Here page

 Thanks to Karen who recommended Promethease on my genetics post. I ran myself and got some fun results. Well, this one isn't so fun- I have a rare genotype, Rs12536657(A;A), associated with hypermyopia. Indeed, myopia and retinal detachment issues are common in my family. I thankfully seem to have halted my vision decline around the time I improved my diet, but that could just be vision stablization associated with age. 

Last year I took a genetic test for celiac disease and my doctor told me it was impossible for me to have it. Unfortunately, like all things, there are many factors and genes at work. How much genetics coursework do doctors have to do anyway? That's why I feel that much future innovation will be done by biopunks- biologically educated nerds with time on their hands. That is unless our government "protects" us from our own genetic information. Oh the hilarity that people with science degrees and training in molecular genetics wouldn't have access, but older doctors who have never taken a genetics class in their life will... 

Turns out I do have a variation strongly associated with celiac disease: Rs3184504(T;T).

In high school and early in undergrad, I was taking lots of NSAIDs for headaches. I developed ulcers because of this. Perhaps my gene associated with impaired NSAID metabolism was at play? 

I also have a genotype associated with reduced conversion of beta carotene to retinol: Rs12934922(A;T). People with this genotype must rely more on dietary retinol, only present in animal products. It's interesting that this is most common in people with Northern and Western Europe Ancestry, perhaps reflecting an environment where dietary retinol was plentiful? I better eat liver anyway since I have a genotype associated with impaired folate metabolism.

I definitly recommend Promethease. It's a great way to learn about human genetic variation and your own variation in response to drugs and diet.