12 July 2014

Information on my genes provided by 23andMe and Promethease

Finally got my DNA analysis back from 23andMe:

Since the FDA stopped allowing them to interpret the data for their customers, I had to spend an extra $5 with https://promethease.com/ to get useful information out of it.
Here's the most interesting and useful stuff they found:

gs 229 & i3003137(A;T)- Sickle cell trait; resistant to malaria but a carrier for sickle cell anemia. Note some believe gs229 individuals should be identified by screening before being exposed to extreme physical exertion due to ~30x higher risk for sudden death
 Sickle Cell Anemia carrier - "Bad news: You are a carrier for Sickle Cell Anemia. You should consider having your partner tested before before having children. The good news is that you are naturally resistant to malaria."
[I learned this at Coast Guard bootcamp. The info the doctor gave me said there is rarely any real life effect, other than sudden death during extreme activity such as mountain climbing or... military bootcamp! I didn't die though :P ]

gs251 - Beta Thalassemia carrier (Beta thalassemia is a hereditary disease affecting the hemoglobin - similar to sickle cell)
[I guess I should go visit the tropics, take advantage of the fact that I am malaria proof]

rs738409(G;G) - higher odds of alcoholic liver disease, increased liver fat While found in 55%+ of all people, alcohol seems to be 3x more damaging to your liver than typical
[That's ok, I rarely drink anyway]

rs7294919(C;T) Moderately enhanced hippocampal volume
The hippocampus is a critical brain structure involved in learning and memory. In particular, it is associated with the ability to form long-term memories of facts and events

rs2237717(T;T) - roles in general neurodevelopment and in the development of autism . Rs2237717 has been linked to schizophrenia, and the ability to recognize facial emotion.  Possible cancer protection.
[I've always suspected I may have just a touch of Asperger's / ASD.  Not enough to be diagnosable, but enough that I often sympathize more with the experience of aspys than of NTs.  Wonder how much of that is related to rs2237717(T;T) ]

rs11614913(C;C) - increased risk of various types of cancer

rs2180439(T;T) - 2x increased risk of Male Pattern Baldness
[Well, I was already aware of that.  But...]

rs925391(T;T) - unlikely to go bald
[So maybe it won't be completely?]

rs1800497(C;C) Learns from mistakes more easily. Men may have a higher risk of Obsessive Compulsive Disorder but lower risk of ADHD. Lower risk of alcoholism and smoking addiction. Faster recovery from traumatic brain injury. Lower obesity due to increased pleasure response to food
[well now that is interesting!  A number of people have commented that they find it strange that I'm not particularly excited by food, that my hunger is more than my appetite, and sometimes I don't feel like taking the effort to prepare food.]

rs72921001(C;C) - More likely to think cilantro tastes like soap
[AH HA ha ha ha!  Hmm.  I don't think I think cilantro tastes like soap, but now I really want to find some and taste it!]

rs3732379(C;T) - reduced risk of acute coronary events

rs53576(A;G) - oxytocin receptor polymorphism (OXTR)

You have a SNP in the oxytocin receptor which may make you less empathetic than most people.
[I wonder how many people who know me will be surprised by that :P ]
When under stress you may have more difficulty recognizing the emotional state of others which impacts loneliness, parenting, and socializing skills
Lower levels of reward dependence (reliance on social approval). Lower autonomic arousal while perceiving harm to others.
[I object to the characterization of this as "dysfunction".  It is different than the norm, sure.  But just because I can't tell how you feel from your expression doesn't mean I'm any less likely to care.  It just means I need more explicit communication - which is generally a good thing anyway.  
Combined with good communication, I bet it makes for less misunderstandings: while I do worse than average on 
"Reading the Mind in the Eyes Test", I KNOW when I'm not sure, while people who do better are often confident even when they are wrong.  Therefor I'm more likely to ask.
Also, reliance on social approval isn't really a good thing.
This study http://mic.com/articles/92479/psychologists-have-uncovered-a-troubling-feature-of-people-who-seem-too-nice isn't really about "niceness" as it claims, so much as about the politeness that stems from a high reliance on social approval.  In other words, ASDs are a lot less likely to hurt others in order to fit in or be accepted.
Lower autonomic arousal while perceiving harm to others is probably a trait you want in a rescuer (USCG Search and Rescue, for example) - similar as I said above, the fact that I don't have a strong emotional reaction to your distress doesn't mean I don't care.  It means I can stay calm and collected during you crises, which makes me more effective at helping you.  Do you really want your rescuer to be so sympathetic that they freak out and start crying when they see how much pain you're in?]

gs128 & i4001527(D;I) - Blood type O+

rs601338(A;A) - Immunity to Norovirus
[One more reason to travel]

rs1815739(T;T) - Impaired muscle performance. Fast-twitch muscle fibers completely unable to produce alpha-actinin-3.  (poor sprinting and maximal strength). No apparent effect on slow twitch (endurance) fibers.
[That sucks.  It explains why, even when I do everything I'm supposed to in terms of strength training program, rest, nutrition, and supplementation, I still progress so much slower than others.  Oh well, at least now I know its not my fault]

gs100 & rs182549(C;C) - 77% risk of lactose intolerance
[Interesting.  I'm not.  Dairy is probably 25% of my calorie intake, no effects on me at all]

rs2943634(A;A) - lower risk of ischemic stroke

rs807701(C;C) and rs793862(A;A) - 3-5x increased dyslexia rsik

rs9273363(C;C) - Much lower (0.15x) risk of Type 1 Diabetes

rs1800955(C;T) - increased susceptibility to novelty seeking (due to less-efficient serotonin processing)
[I've noted in the past that of the major characteristics of ASD, the primary ones I lack is desire for routine and repetition.  I do in fact get bored easily, which is the main reason I have quit every 40-hour a week job I've ever had, and only managed to stick with my current "career" by having 5 different jobs]

gs184 - able to taste bitterness.  You can taste propylthiouracil (PROP), PTC, and related chemicals.  Coffee and dark beers also tastes more bitter.
[Interesting.  So maybe everyone else isn't just deluding themselves into thinking those things taste good just because they enjoy the effects of intoxication.  Other people actually experience something different than I do when they taste them!]

gs157 & rs762551(A;C) - enhanced stimulation by caffeine
[I bet another significant reason is because I almost never use it, so my tolerance is normally zero]

rs5751876(T;T) - significantly higher anxiety levels after moderate caffeine consumption
[hmmmm... I've always assumed I don't care for the taste of coffee, tea, cola, and chocolate just because they taste bitter.  But maybe there's also a subconscious factor from my brain noticing the negative effect caffeine has on me.  I've never noticed it consciously those times I have consumed a lot though]

rs17070145(C;T) - increased memory performance (20%!)

rs1799990(A;G) - Resistance to Prion Disease (PrP 129 Met/Val heterozygote) [the human form of Mad Cow Disease]
" this genotype prevents transmission of kuru, a form of Prion disease transmitted by cannibalism. So eat as many brains as you want!"


  1. Thanks for the post, it had been away since I'd combed through my 23andMe data, and you helped me uncover a few more intersting aspects. The lack of emotion was what I was really looking for... I just took an Asperger's test which I came in quite low on, but the emotion thing is something I've noticed most of my life, and have really been paying attention to and working with the last few years. It makes a bit more sense now...

  2. This is awesome!

    I've done the same and found that the G6PD deficiency is also correlated with resistance to Malaria.

    You mentioned using Promethease, have you tried CodeGEN as well?

    1. not yet, this is the first I've heard of it. I might now that you told me...

  3. You might also find it interesting to see what's new in the 2.5 years since your last Promethease report, by running a new Promethease report.

    Promethease is based on SNPedia, an open source of information that is constantly growing as well as being reviewed, whereas other services do not reveal where they get their information (although probably many just take it without permission or acknowledgement from SNPedia).


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