Big sale on 23andme if you want to be genotyped

[Wezil]

God no, I'm not that cruel.

I was thinking more of self-testing for bad stuff.

[Asher]

I ended up group buying to save on shipping costs and ordered before the sale ran out.

Got my results back today. Very very interesting.

My mother (who has a curiously dark complexion) turns out to have genes which trace back to the Canary Islands and North Africa. My father's ancestry traces back to, unsurprisingly, the UK -- entirely.

Specifically, my paternal haplogroup is R1b1b2a1a2f2. Which apparently indicates I am a descendant of Niall of the Nine Hostages -- an Irish King from the ~6th century. http://en.wikipedia.org/wiki/Niall_of_the_Nine_Hostages

Was also very, very interesting to see it guess my eye colour correctly, my blood type, inability to taste some bitter flavours (coffee, dark beer, raw broccoli, etc).

I also enjoyed seeing what kind of diseases I'm predisposed to (I'm 3x more likely than normal to get a brain aneurysm and prostate cancer...), and which ones I'm far less likely to get (I've got 10% chance compared to normal people to get diabetes, multiple sclerosis, etc).

Very cool.

[DanS]

Worth the $99?

[VetLegion]

This is definitely interesting... I'd do it for $99. Perhaps when there's another
sale.

[Jon Miller]

Yeah, sounds interesting.

JM

[Asher]

Worth the $99?

I think so.

Definitely not for $499, though.

[Asher]

I'm also very impressed by how detailed the information is. Aside from the easy to read summary charts, you can drill down into each row and see why they classified you as such. For instance, clicking into the Prostate Cancer shows you to what degree of confidence their prediction is and why they made it so. It breaks down every SNP they've detected, then in layman's terms discuss why that particular SNP makes you more or less risky for prostate cancer, and by how much. It then provides citations to the actual literature and studies also for a more formal explanation.

It also has a section on each one on "genetics vs the environment", with a percentage indicator saying how much is determined by genetics. For prostate cancer:

The heritability of prostate cancer is estimated to be 42-57%. This means that genetic and environmental factors contribute nearly equally to differences in risk for this condition. (If you are a woman, you have no chance of getting this type of cancer, but if you have sons, their risk may be affected by what they inherit from you.) Genetic factors that play a role in prostate cancer include both unknown factors and known factors such as the SNPs we describe. Other factors that can increase your risk include being older, having African ancestry, or living in North America, Northwestern Europe, Australia, or the Caribbean islands. The effect of nationality may be tied to diet, as a diet high in red meat and high-fat dairy products, and low in fruits and vegetables, may also put you at increased risk. (sources)

Of the 5 SNPs known to be correlated with prostate cancer, 3 of them indicate I am ever so slightly less likely to get prostate cancer, but 2 of them indicate I'm much more likely to get it. It takes the aggregate of the group on the report summary.

Then it provides snippits like this:

Three SNPs in the same area of the genome have recently been found to be independently associated with prostate cancer risk. This region is called 8q24, because it lies within band 24 on the long arm (named the "q" arm) of chromosome 8. The three SNPs are not close to known genes (although there are others located farther away). But other studies have looked at DNA from prostate tumors and found that in the cancerous cells, this area of the genome often has unusual duplications, or extra copies of DNA.

The duplications might contribute to the progression of prostate cancer (for example, by increasing the number of genes related to cell growth), or they might simply be a side effect of the high mutation rate seen in all types of cancer cells. Similarly, the riskier versions of the SNPs in the 8q24 region might directly affect activity levels of genes involved in prostate cancer, or they might somehow make it easier for DNA duplications to occur. (And, of course, they might only be linked to yet-unknown SNPs that are directly involved.)

One study has repeated this association in a sample of Japanese Americans, but this result needs to be confirmed.

[Asher]

I also found out I'm a carrier for only one known mutation: Hemochromatosis.

It doesn't affect me, but it could affect my children depending if the partner has specific mutations related to Hemochromatosis also.

It also lets me know I'm a fast caffeine metaboliser. Drinking caffeine does not increase my heart attack risk. Whew.
But I'm also far more likely to experience vomiting and nausea after general anesthetic. I could've told them that.

[Asher]

I also have a trait in common with virtually every world-class sprinter: the ACTN3 genotype.

One working copy of alpha-actinin-3 in fast-twitch muscle fiber. Many world-class sprinters and some endurance athletes have this genotype.

This gene produces a protein called alpha-actinin-3 that is only turned on in fast-twitch muscle fibers (the kind used for power events like sprinting or weightlifting). The protein forms part of the contractile machinery in muscle cells, where it is thought to play both structural and signalling roles.

The T version of the SNP in this gene prevents the full protein from being made. People with two copies of the T version thus have a total lack of alpha-actinin-3 in their fast-twitch muscle fibers. Those with the CT genotype have one functional copy of the gene and can still make the protein.

Surprisingly, a complete lack of the alpha-actinin-3 protein doesn't seem to cause any type of disease. This is probably because another closely related protein can step in for alpha-actinin-3 in people without a functional copy. The substitute protein likely does not perform its job as well as alpha-actinin-3, resulting in worse performance in power exercises.

Despite lack of a disease outcome, researchers wondered if the absence of alpha-actinin-3 might have an effect on athletic performance. Studies of elite athletes in Australia and Finland showed that power athletes—those whose performance depends on fast-twitch muscle fibers—were much more likely to have at least one working copy of the gene than non-athletes. In one study of Olympic power athletes (i.e., the best of the best), all had at least one working copy. Similar results were found in a study of Spanish professional soccer players.

But does alpha-actinin-3 make a difference for non-athletes? In fact, it does.

One study looked at a group of Greek teenagers who had been tested for a variety of fitness measures related to power and endurance sports. In this group, ACTN3 genotype had no effect on the girls, but boys with the TT genotype were significantly slower in a 40 m sprint. Interestingly, running was the only power event that the different versions of ACTN3 seemed to affect. For activities like throwing a basketball or jumping into the air, performance was unaffected by genotype.

Another study looked at arm strength in a group of people before and after 12 weeks of strength training. ACTN3 genotype appeared to have no effect in men, but women with the TT genotype had lower strength at the beginning of the study. After the training program women with the TT genotype—those without a working copy of alpha-actinin-3—had made greater gains than the women with at least one functioning copy. This was true in both European and Asian women.

Scientists aren't really sure why having alpha-actinin-3 would improve power performance. One theory is that the protein prevents damage in fast-twitch muscle fibers. The group who conducted the study of Greek teenagers thinks this explains why only running and not other power activities were affected by a lack of alpha-actinin-3. Running involves repeated use of the muscles, while jumping only uses muscles once: damage is not an issue.

The scientists who saw that women with the TT genotype were able to build up more strength than other women also think alpha-actinin-3 protects muscle fibers from damage. Muscle damage is what stimulates muscles to adapt and become stronger. Those with the TT genotype lack the protection against damage that alpha-actinin-3 normally provides, thus allowing a greater gain in strength.

Alpha-actinin-3 may also affect athletic performance by virtue of its effects on oxygen usage in muscle. Two studies (one in mice and one in humans) have shown that fast-twtich muscle fibers that lack functional copies of ACTN3 use more oxygen than those with at least one working copy. This type of metabolism might slow them down. Mice studies have also shown that these altered fibers are weaker and smaller than fibers containing alpha-actinin-3, but they are more efficient an resistant to fatigue—a situation that is better suited to endurance sports than sprinting.

Cool ****.

[BeBMan]

Bah, genetic testing for health, of course they'll use the info to create clones that look all the same and are mind-controlled to serve as Google-Warriors in their war for world domination. No wonder they drive around map everything for street view right now, it's all reconaissance to ID strategic targets.

[Starchild]

$499? When I could do it myself at work for free?

Do they give you the individual nucleotide traces? Those are pretty...

[Asher]

It was $99, back in the day.

Do you work for a firm with genotyping chips? I doubt they'd let you sequence your own genome.

[Starchild]

No, I work in academia with a decent budget and little oversight of our sequencing facilities. :-)

[Asher]

I dare you to do it, mother****er. Double dog dare you.

[Wezil]

Can we get Ben tested and find out WTF is wrong with the boy?