Working these genes.

Obviously, my genetic make up has been on my mind a lot these last 6 months…mostly in a way that makes me feel deficient, defective, and doomed.

But BRCA1 is just one of about 20,000 genes that form who I am. And it does not define me. While there are undoubtedly other defects and flaws existing, not yet identified, within my 23 pairs of chromosomes…there is also coding that makes me strong, smart, and talented.

I did genetic profiling through 23andMe about 4 years ago, and found out some marginally interesting things about my health risks and ancestry (but not my BRCA status). However, I’ve recently been playing around more with some of the third party tools that analyze the raw data from 23andMe and provide a far greater level of detail.

In these explorations I’ve focused primarily on health and wellness-related genetic indicators as this is something that has always interested me. I’ve been exploring ways to live the healthiest life I can for more than a decade…experimenting with modes of exercise and eating to see how they change the way I feel. Learning a bit about how my unique genetic make up may impact my response to things like exercise and food choices seems like a timely next step in this process for me.

So here is what I learned and what I am going to do with this knowledge (specific gene variations indicated in parentheses). Note: this is probably interesting to very few people other than me and maybe those curious about genetics:

Finding #1: I have an increased risk for celiac disease (SH2B3 rs3184595{C;T}) and likely lactose intolerance (MCM6 SH2B3rs4988235{C;C}).

  • Reflection: This won’t change too much for me. I already know that I feel best when eating gluten free and have been doing so (with varying levels of strictness) for about 12 years. I also don’t eat much high-lactose dairy but do love cheese and yogurt…but this may encourage me to cut down.

Finding #2: I have “inefficient transfer” of ALA fatty acids into EPA and DHA fatty acids (FADS2 rs1535{A;G}).

  • Reflection: So basically, vegetarian sources of fatty acids won’t cut it for me. Good thing I gave up on veganism in 2006. 😉 Since finding this out I’ve decided to add a fish oil (EPA/DHA) supplement to my daily regimen and am also making mindful choices around eating more natural sources of these fatty acids (aka seafood). Luckily, I love seafood!

Finding #3: I have “abnormal” metabolism of saturated fat (PPAR gamma rs1801282{C;G}) as well as several genetic variants associated with an increased detrimental impact of saturated fat in terms of 1.5x – 2.5x normal risk of obesity, insulin resistance, and diabetes (FTO rs17817449{G;T}, rs9939609{A;T}, rs1121980{C;T}).

  • Reflection: Well this sucks. I eat a fairly low carb, high fat diet and have for the past 10 years or so…and I feel pretty good eating this way! Eggs (with yolks!) are a near-daily staple for me and I eat red meat or pork generally 1-3x per week. So typically I far exceed the 20ish grams of saturated fat per day recommended for this genetic variant. I’m not convinced that switching to a lower fat (and therefore higher carb) diet will be some sort of panacea for me (and I’m not obese or diabetic despite my current high saturated fat diet)…but I’m willing to give it a try. So this is the major experiment coming out of this deep dive into my genetics. For the next month or so I’m going to try my hardest to limit my saturated fat intake to 20ish grams per day…just to see what happens.

Finding #4: I’m hungry. Or rather, I have increased production of the hunger hormone ghrelin which is linked to an increased risk of obesity and type 2 diabetes (FTO rs9939609 {A;T}).

  • Reaction: I’ve always loved food. I love eating it, cooking it, talking about it, thinking about it (cue drooling Homer Simpson meme)…now I wonder is that just my increased ghrelin talking? And is there anything that I can do to calm the voice of my ghrelin gremlin to lower my food fixation a bit? Apparently eating a high fiber breakfast has been shown to regulate ghrelin levels throughout the day…so while I’m changing up my eating patterns in an effort to decrease my saturated fat intake I’m going to play around with upping the fiber content of my morning meal.

Finding #5: I have genetic exercise privilege. This basically means all forms of exercise are beneficial to me…not just high intensity exercise (ADRB2 rs1042713 {A;A}).

  • Reaction: Finally some good news. Although I’ve sort of figured this one out via experimentation, but it’s validating to see some proof in black and white. Seems like there is no reason to switch up my current low to medium intensity exercise routine of yoga, weight lifting, and walking.

So that’s basically what I’ve learned about my self through this jump into the nitty gritty of my genetic code. I find this stuff pretty interesting, and it made me feel a bit less like a freak to learn that these are all normal genetic variants and are generally pretty common. In fact, most of these variants have population base rates of 40-55% in people of European decent…so about half of people with backgrounds like mine have the same obesity, diabetes, and saturated fat related risks as I just described. The couple exceptions to this are the lactose intolerance variant and the exercise privilege variant which have 8% and 12% base rates respectively.

I guess it just feels good to take a little time to step back and focus on the big picture of my health and wellness when I spend so much time looking at it through the microscope of BRCA. So much of my mental energy goes into thinking about timing for surgeries, planning for recovery, scheduling screenings, blah blah blah…that I need to remind myself that my health is more than just avoiding breast and ovarian cancer…it’s eating, sleeping, exercising, stress management…and that these facets of my wellness deserve my attention as well.


Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s