23andMe.

Feb. 2nd, 2016 02:52 pm
angledge: (polar bear paw)
[personal profile] angledge
My brother [livejournal.com profile] weedweasel got me a really cool Christmas present this year – a test kit from 23andMe, one of the DNA sequencing companies that will collect a sample of your saliva, then sequence your DNA. I got my results yesterday, & while I haven’t gone through all 62 of the reports in detail yet, there are already some fascinating things.

First off, an unsurprising result: I am 99.7% European. 23andMe broke it down further as 97.3% Northwestern European (60.4% British & Irish, 7.8% French & German, 3.7% Scandinavian, & 25.3% “broadly Northwestern European”), 1.5% “broadly Southern European”, and 0.9% “broadly European”. The remaining 0.3% is Native American, weakly supporting a long-held tradition in my mother’s family that we have one Native American ancestress (more on this later).

Second, my DNA appears to be four percent Neanderthal! This is a very high percentage, higher than 98% of 23andMe customers! I have 325 variants that are considered Neanderthal in origin (out of a possible 2,872). The highest number 23andMe has ever seen in one customer was 387! I have them from both parents (at 21 variant locations, both of my genes have the Neanderthal allele). The information on what these gene variants may mean to me was pretty limited in the 23andMe report, but strangely one of them is associated with LESS back hair (totally contrary to what I think of when I think of Neanderthals) and another, strangely, means I am less likely to sneeze after eating dark chocolate (??). Not that any Neanderthal ever would have encountered dark chocolate. Since so much of my ancestry is European and Europe is where Cro-Magnon humans and Neanderthals co-existed & interbred, it makes sense that I would have a relatively high genetic contribution from Neanderthal sources. Maybe that’s why I like the Paleo diet so much!

Other interesting discoveries:

  • I am part of the mitrochondrial/maternal haplogroup J1c2. I inherited this genetic marker from my mother, who inherited it from her mother, who inherited it from her mother, etc. This is a very interesting data point for me, because our family’s oral tradition states that my mother’s mother’s mother’s mother, Nancy Lee Burns, was a Cherokee Indian. Since she is my matrilineal ancestress, I carry her maternal haplogroup. But haplogroup J1c2 is associated with deep ancestry in Europe or the Mideast. Possibly Nancy Lee Burns had a non-Native mother and a Native father. This would allow for my 0.3% Native American ancestry to still be traced to her. As my great-great-grandmother, she likely contributed about 6.25% of my DNA (one-sixteenth). So if she was even half-Native American, I should have a much higher percentage of Native American DNA. Other thoughts on the J1c2 haplogroup: I’ve had trouble sussing out exactly what it’s supposed to tell me. But interestingly, King Richard III Plantagenet of England was a J1c2c (Wait, there’s an extra letter in there! What’s my J1c2 sub-type?). Perhaps I have some Norman ancestry on my mother’s side.
  • Lower caffeine tolerance. Two genes were identified by 23andMe as playing a role in a person’s sensitivity to caffeine. One is the CYP1A2 gene, which contains instructions for an enzyme that breaks down many substances, including caffeine. The T allele of the CYP1A2 gene is associated with higher reported rates of caffeine consumption. Perhaps this variant causes more of the CYP1A2 enzyme to be produced, thus clearing caffeine from the body more quickly? Anyway, I have the C allele, which is more common & is associated with typical levels of CYP1A2 enzyme production. 23andMe also tested for variants of the AHR gene, which contains instructions for a protein that helps turn on the production of the CYP1A2 enzyme. In this gene, the C allele may cause this protein to turn the CYP1A2 enzyme on more frequently, which would again clear caffeine from the body more quickly. And again, I have the T allele, associated with normal levels of the controlling protein. These two genes may partially explain why I was the Energy Creature in college, unable to come down off a caffeine buzz for hours at a time. Not enough CYP1A2 enzyme!
  • More fast-twitch muscle fibers. 23andMe tested for variants of the ACTN3 gene, which contains instructions for making alpha-actinin-3, a protein found in certain types of fast-twitch muscle fibers. People who make this protein tend to have a greater proportion of fast-twitch muscle than people who don't make the protein. I have the C allele, which is associated with typical levels of alpha-actinin-3 being produced. The T allele results in no function alpha-actinin-3 being produced and therefore fewer fast-twitch muscle fibers. This might explain why I’ve always been more competitive at sprints vs. long-distance swimming events. 100 IM for-evah!

Interesting omissions from the report:

  • 23andMe did test for genetic markers associated with the so-called finger length ratio. Generally, in women, the index finger is longer than the ring finger, while the reverse is true in men. However, lesbians are more likely than straight women to have longer ring fingers than index fingers. Developmental biologists discovered that digit length is influenced by levels of testosterone in the womb - but it's also partially controlled by some genes. 23andMe reported these genes, but didn't mention anything about the correlation to homosexuality.
  • The report included 36 reports on carrier status for genetic diseases. There were some big ones, including cystic fibrosis, sickle cell anemia, & Tay-Sachs disease. But I was more struck by what they didn't report: media-famous genes like BRCA-1 & BRCA-2 (related to breast cancer), or any of the markers for Parkinson's or Alzheimer's disease. Perhaps they are trying to avoid panicking their customers.

Date: 2016-02-03 01:37 am (UTC)
From: [identity profile] krick.livejournal.com
So... do you have less back hair?

23andMe got into a scuffle with the FDA last year over providing "health data" to their customers...
http://www.theverge.com/2015/10/21/9581555/fda-23andme-health-data-limited-approval

I'm betting that the omission of breast cancer related genes from the report is related to that situation.

Date: 2016-02-03 04:49 am (UTC)
From: [identity profile] angledge.livejournal.com
Ah-ha. I should've guessed it was something like this. Thanks for the link.

As for back hair, I don't know? Less than who? I don't have any discernable back hair that I know of!
Edited Date: 2016-02-03 04:49 am (UTC)

Date: 2016-02-12 06:37 pm (UTC)
From: [identity profile] love2loveher.livejournal.com
Yeah, when I did 23 and me, I didn't get any sort of health informtion. I had to send my results somewhere else.
Do you have the MTHFR gene?

Date: 2016-02-12 06:49 pm (UTC)
From: [identity profile] angledge.livejournal.com
Where else did you submit your results? I sent my to DNA.land (https://dna.land/), but I didn't really get any additional information.

My report did not include an analysis for the MTHFR gene, as far as I can tell.

Date: 2016-02-12 11:52 pm (UTC)
From: [identity profile] love2loveher.livejournal.com
I did Promethease, but my friend T said that I should have done livewello.

Date: 2016-02-17 09:45 pm (UTC)
From: [identity profile] topum.livejournal.com
23andMe is cool.

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