# 23andMe IBD study - your help needed!



## nogutsnoglory

Hey folks,

23andMe a genetics company has partnered with Pfizer to study the saliva samples of IBD patients for genetic variations that will provide insight into new treatments and a better scientific grasp of these diseases. This study is free and easy to do! Participation is anonymous, you don't need to leave your home and takes about 15 minutes to do. 

23andMe normally sells their kits to consumers who want to know more about their ancestral history and raw genetic data but those with IBD who enroll in the study are entitled to get their genetic ancestry information for free while also helping further research. 

Benefits for participants:

-You will receive access to 23andMe's -Personal Genome Service® (valued at $99)

-You will learn about your genetic ancestry.

-You will have access to your uninterpreted genetic data.

"We will work together to learn how your genes and your environment could play a role in IBD drug treatment, and how they relate to IBD risk and progression."

*In order to participate in the first study within the IBD community, you must meet all six criteria below:*

1. You've been diagnosed with Crohn's disease or ulcerative colitis by a qualified physician.
2. You're willing to submit a saliva sample for DNA testing and complete online surveys related to your condition.
3. You have access to the internet.
4. You are at least 6 years old (minors under 18 require parental consent to enroll).
5. You are not a 23andMe customer.
6. You reside in the United States.


It's extremely easy and totally free! All you do is apply and spit in a tube you send back and fill an online survey about your IBD history ie: medications, severity, procedures etc. 

I have spoken with our admin about posting this and as a moderator here I want to make clear that I have no affiliation or interest in this beyond that of a patient desperate for new research and ultimately a cure. 

I hope you can join me in participating in this simple but important study. I'd be happy to try and answer any questions. 

For more info and/or to apply please visit http://www.23andme.com/ibd


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## Jennifer

I entered.


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## Maudddy

Sounds amazing, it's a bummer that I don't live in the US.
Am really curious for the results, do you have them back jet?


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## nogutsnoglory

Maudddy, sorry the study is only US. they may sell the kits internationally though if the genetic data is of interest to you. Not sure! 

I believe it said I should get an email with results in 4 weeks. I am excited lol!


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## nogutsnoglory

Note to anyone entering, you can't select crohns and UC as your diagnosis even if at one time you were misdiagnosed with one or the other. Just go with the latest diagnosis. 'Crohn's colitis' falls under crohns. Choosing both options renders you ineligible.


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## my little penguin

Since it's not a research study per say 
Do you know how they protect the information /store since the same research laws don't apply to independant commercial companies ?

Only I ask since my kiddo is 10


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## nogutsnoglory

"You own your genetic data. You will be participating in this research at your own discretion, answering surveys as you wish. You can also withdraw at any time. However, your saliva sample, once submitted to and analyzed by 23andMe, is processed in an irreversible manner and cannot be returned to you.
To increase the chance that meaningful scientific discoveries about your condition are made, 23andMe may share your de-identified, individual-level data with qualified research partners, such as Pfizer. This means, you are anonymous to Pfizer and anyone else we partner with in the future (global researchers, global scientists, etc).

The shared data will be stripped of all identifying components (name, email, address, user ID and password). If 23andMe shares your genetic or self-reported data with a qualified research partner, this action cannot be undone and your data will not be returned to 23andMe."


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## Nancye50

Done, thanks for sharing!


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## poopaholic

Signed up and already received email stating that my kit is on its way.


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## nogutsnoglory

They are super fast. I think I got my kit 3 days after I signed up. Now just waiting for results and of course will watch their updates with interest to see if they make any breakthroughs.


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## poopaholic

Received my kit in the mail today. That was quick.


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## nikimazur

Done weeks ago, and have my results back! Love it!


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## Beach bum

So disappointed this is not for the UK too, but really hope it helps them with new research.


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## nogutsnoglory

Nikimazur so glad you got your results. Anything interesting? Did you use Genetic Genie to decipher? Sorry beach bum wish it was intl


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## nikimazur

Yes, used Genetic Genie to decipher results. One thing that stuck out to me, was being heterozygous for the MTHFR gene. I know there were previous posts about this mutation regarding IBD. I would like to spend more time going over it, but have been quite busy. I had no real surprises when it came to heritage, as my family has been quite informed. I'm 99.99 percent European.


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## nogutsnoglory

I'm really curious about the MTHFR genetic mutation as well. I'm going to start Deplin and hope that really helps me if indeed I have the folic acid absorption issue due to IBD and that. I think they said 4-6 weeks till I get my results.


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## Sef0912

Sounds interesting.  Might teach me a thing or two about myself.


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## syzygy

Thanks for posting this.  I was planning on doing one of these kind of kits just for genealogy work at some point.  Sweet!


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## DougUte

I've signed up.


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## Emily

I'm doing it! thanks for sharing!!


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## sir.clausin

Signed up!


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## syzygy

One thing concerned me in their terms of service.  There's a bit in there about how insurance companies and the like sometimes ask whether you have any genetic information and how it could be considered fraud if you did not disclose having the info from their service.  I'll probably still go ahead and do it, but might make another push on life insurance first.


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## nogutsnoglory

I don't see why insurance companies would care about it but I also don't see any reason why I'd hide that I'm part of a genetic database for IBD from them. Insurance knows I have IBD anyway considering all the expenses and coding for treatment.


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## syzygy

It's more about life insurance, because there are protective laws in place about health insurers.  Also, it's not as much the diagnosis of Crohn's as the access to the wide variety of genetic markers that we'd receive info on.  What they seem to give is a large amount if raw genetic data, some if which will contain info on markers known to correlate with various diseases and mortality (or which in the future may be found to correlate.)

I'm not specifically trying to talk anyone out of it, but it was a point that gave me pause.


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## nogutsnoglory

Those genetic markers would be given to us and de-coded and anonymous for research purposes. It's my understanding that not even pharma and researchers will know whose DNA they are dealing with.


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## my little penguin

But you will have a copy of the raw genetic data contain info on lots of different potential diseases which just like anything else must be disclosed to the life insurance company .
Granted not sure how much an issue this would be .
Also it's the raw data since the company was banned from giving out reports on the possible what ifs to the public by the FDA


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## nogutsnoglory

They wouldn't obtain the report though, it's only shared with us. I wouldnt worry about it to be honest because over 500,000 Americans have signed up with 23andme and just because one has a genetic risk doesn't mean anything will happen. Everyone has genetic risks.


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## nogutsnoglory

Also, just to put any fears to rest that even if you disclose to a life insurance company that you had a genetic test done, you can know you join hundreds of thousands of healthy Americans who paid 23&me for health info and ancestral data. Just participating with 23&me doesn't mean one is ill. Plus with the Obamacare act, insurance could not discriminate based on pre-existing health issues. I'm not a lawyer but think it's all ok.


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## DougUte

Got the Kit today. All ready to go.


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## nogutsnoglory

Great to hear so many of you are participating! I can't wait till we get our results and can also try to put pieces together ourselves. 

My only thought about this study is couldnt anyone claim they have crohns to get a free kit? I'm not worried about it here or probably anywhere for that matter but all I did was check a box and didn't have to prove by doctors note that I have ibd. Does my spit show im legit lol?


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## Jennifer

syzygy said:


> One thing concerned me in their terms of service.  There's a bit in there about how insurance companies and the like sometimes ask whether you have any genetic information and how it could be considered fraud if you did not disclose having the info from their service.  I'll probably still go ahead and do it, but might make another push on life insurance first.


Maybe dispose of the info? Or make sure there's no information on it that leads to you specifically. 

I thought life insurance only cared about the conditions you've been diagnosed with (clearly I haven't dealt with life insurance yet) but I guess it's possible they ask things like "has anyone in your family been diagnosed with _______?" I'm not entirely sure this test will apply as it's likely no one in your family has been diagnosed with anything you might find on your results. 


I received my kit in the mail and sent my sample yesterday.  Maybe I'll find out that I don't have Crohn's at all.


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## nogutsnoglory

The Great Bowel Movement wrote a piece on this http://thegreatbowelmovement.org/23andme-ibd-dna-study/

Apparently 2,500 crohnies have already participated and they are at 25% for their recruitment goal which started in August.


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## nogutsnoglory

Got my results! I'm very European which wasn't a surprise but I plugged in my info on genetic genie and have mutations that make folate and b12 conversion difficult. I want to do more digging and am also curious about the genes suspected to influence IBD and where I am on those. Love to hear if anyone got any back yet.


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## Jennifer

Haven't gotten mine yet but I'll post when I do.


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## my little penguin

3-4 weeks for ds


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## Jmrogers4

Plan on getting it done this week.  Kit is out and ready just need to do it.  It will be interesting since father is adopted and we really have no idea of ancestry on that side.


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## KarmaForHire

I just got my kit yesterday, all I have to do is spit in the tube and mail it in.


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## DougUte

I am waiting for my results. Will let you know when I get them. 

I already know my ancestry is all European, but I will check the results for any surprises. I want to check on genes that are suspected to be involved in Crohn's.


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## CrohnsChicago

Just now seeing this post. I'm going to sign up!

I've read about 23 and Me before when they were doing the health reports but I had now clue about this project.

Thanks for sharing NGNG.


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## Jennifer

I got my results. Very European (knew that). 2.8% Neanderthal (not surprising from European decent). Not very Italian. That's not good because I'm supposed to be a quarter Italian. I'm only showing 3.9%. I'm having my sister who has Crohn's do this as well so we can compare our results.


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## poopaholic

I have received some of my results already . I am 99.4% European and I also have been contacted by a distance cousin. It has all been very interesting and informative .


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## nogutsnoglory

I ran the raw genetic data on a few free and low priced tests and have found I have most of the mutations for crohns but one of them showed a decreased chance of IBD. The others clearly won out. 

Some of my other predispositions are also interesting. I have the MTHFR genetic mutation which means I only absorb 30% of  folate so I switched to a multi with methylfolate and will continue deplin which is high dose folate. Apparently the MTHFR mutation is responsible for many ailments so I'm hoping I may be able to fix things a bit.


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## Sea_Star

Where did you run the health-related genetic tests? 23 and Me no longer does it :/


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## nogutsnoglory

A few places will do it for you but most charge. 

Geneticgenie.org is free 
Interpretome.com is free
Promethease.com is $5
Mthfrsupport.com is $20
Nutrahacker.com has some free, detailed $23
Livewello.com (not sure of cost)

I have done genetic genie and promethease so far but I'm a little obsessed now and want to do more.


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## my little penguin

Got the results now to try and figure them out


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## DougUte

Got my results. My ancestry is all European, no surprise there. Need to start with geneticgenie.com


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## my little penguin

Did Prometheus one..
Very easy and no surprise
Tons of crohns and arthritis genes ...


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## nogutsnoglory

Guys be on the lookout for the MTHFR mutation because apparently it's pretty common and a cause for many problems!


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## DougUte

I have started playing with my results. Among other things, I noted this:

rs11209026(A;G) 
0.26x lower risk for certain autoimmune diseases. Substantially decreased risk of Ankylosing Spondylitis (0.6x), Crohn's Disease (0.37x), Psoriasis (0.6x), and Ulcerative Colitis (0.59x). This is the rare version of the interleukin-23 (IL-23) receptor."

I guess my risk of Crohn's disease was not decreased enough!

I am just starting to figure out how to find specific genes in the data.


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## nogutsnoglory

There are over 100 genes thought to be associated with IBD. If you really want to goto town here is a comprehensive list but personally I only checked the most well documented ones so far http://www.snpedia.com/index.php/Crohn's_disease

http://blog.23andme.com/23andme-res...snps-associated-with-crohn’s-disease-triples/


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## my little penguin

I used promethease  it generated a report which sorted out the most common variants of disease including crohns 
Ds has a lot 
So no doubt genetics played a big role for him


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## nogutsnoglory

Did you use genetic genie penguin? That's free and may prove helpful in general.


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## my little penguin

Not yet 
Promethease report pointed out every disease we already know he has.
Kinda cool but kinda scary
May try gentic genie but his mthfr was ok


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## nogutsnoglory

That's good. I think my double mutation for MTHFR may be the cause of many of my non IBD health problems. I'm trying to properly methylate now which if it helps clear toxins and inflammation may help the IBD too. Who knows? All complicated stuff.


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## Jennifer

So my sister got her test results back and they don't quite match (we both show ancestry that's similar but then we have some that doesn't match at all, not even close) which they should. So either this test isn't very good (clearly not as good as a blood test but that bad?) or we aren't really related. She's sending both of our results to her old anthropology professor to see what they have to say. 

We also compared our results on geneticgenie.org and they don't match there either. Some do but there are some where I'm +/+ and she's -/-. 

If anyone else has a sibling with IBD it would be interesting to see if you had the same findings with your sibling or if yours came back the same as your sibling's.


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## my little penguin

Jennifer 
I "think" from talking to other geeky types
23&me finds your SNP 's which can vary from person to person
Some will be the same within a family but some will be different.
Since they only search 1 million out of the 10 million types each person has -there could be error there
Also if you have certain SNP -then 23&me makes general statements about ancestry
Based on reports of people SNP found originally from that same area .
So again another place for error.
Aslo keep in mind the diseases associated with SNP are just that - maybe one or two papers were published siting SNP xyz was in found a population of people with that disease.

Fun to play with but most genetics have move on to more complex ways of looking into genes and mapping .


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## syzygy

Jennifer, do the plusses and minuses refer to Mendelian dominance and recessives or is it code for something else?  If Mendelian, it would just mean that your folks are both +/-.  (In which case you'd have the same chance of being the "same" or "opposite" of your sib: 25%.)


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## Nym

nogutsnoglory said:


> They wouldn't obtain the report though, it's only shared with us. I wouldnt worry about it to be honest because over 500,000 Americans have signed up with 23andme and just because one has a genetic risk doesn't mean anything will happen. Everyone has genetic risks.


You're right 'everyone has genetic risks' and it is for these risks that these studies aka volunteer data collection are being compiled. Future generations will be at greater ri$k. Sorry, blame my university lol


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## Nym

Here's some dot dot dot on 23 and me : 

Back to today.  When all of this focus on ancestry started up in the 90's I was very concerned about it.  Suddenly everyone was on-line posting their family tree and researching their history.  Very nice.  And convenient.  The Nazis had to do all of that work on their own.  Now you're doing it for them.  

Who owns 23 AND ME?  Anne Wojcicki.  Who?  The wife of Sergey Brin.  Who?  The founder and owner of GOOGLE.  Google is heavily invested in 23 AND ME. What does 23 AND ME do with your data?  They keep it.  Store it.  Analyze it.  Inventory and control.  Remember?  What is UN Agenda 21?  It inventories and controls everything.  Including you.  What will they do with it?  Whatever they want. - See more at: 

http://www.democratsagainstunagenda21.com/the-way-we-see-itour-blog/23-and-me-data-collection-for-the-new-world-order

Bill Clinton didn't apologise to the Tuskegee survivors for nothing.


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## nogutsnoglory

Nym I respect your opinion but billions use Google and while they aren't perfect I don't think anything bad will happen with data. We live in a day and age where very little is private and big brother and companies know so much about us. I don't think this is the one to pick a fight on when there is hope it will help us.


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## xeridea

Genomics will help unlock variations in disease and help bring about custom tailored treatments for patients. You may be able to find out what susceptibilities you have to particular antigens and your doctor will be able to prescribe mediation to knock those out of your system. And ultimately they may be able to identify and fix the specific mutations that underlie the disease for each individual. Targeted therapy is much preferred to systemic approaches being used now. The patient populations that are willing to participate in these studies will see the greatest near- and long-term benefits.


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## malorymug

Ya'd think it was Christmas with how excited I am to pour over this 23andme.com data.  Results are in!


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## nogutsnoglory

Haha I was so excited when I got my results. It proved really helpful for me too. I had no idea I had the MTHFR genetic mutation.


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## cheryl888

Wish I could do this but apparently Maryland isn't allowing its residents to do so at the moment....from the 23andMe website FAQ:  

The 23andMe Personal Genome Service is not available in the state of Maryland due to state-specific clinical laboratory testing statutes in place there. If you reside in Maryland we ask that you please not proceed with ordering or circumventing the law by ordering to another state. Unfortunately we can't provide a timeline as to when our services will be made available to Maryland residents. We'll provide further updates on our website as more information becomes available. We hope to make our services available to the residents of Maryland in the future.


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## malorymug

cheryl888 said:


> Wish I could do this but apparently Maryland isn't allowing its residents to do so at the moment....from the 23andMe website FAQ:
> 
> The 23andMe Personal Genome Service is not available in the state of Maryland due to state-specific clinical laboratory testing statutes in place there. If you reside in Maryland we ask that you please not proceed with ordering or circumventing the law by ordering to another state. Unfortunately we can't provide a timeline as to when our services will be made available to Maryland residents. We'll provide further updates on our website as more information becomes available. We hope to make our services available to the residents of Maryland in the future.


That is crazy!  Seems like there should be an exception for studies like this one.  It would sure be tempting to temporary become a resident of another state. 

Also, I would let my representative know this law has an unintended consequences of limiting IBD genetic research.


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## apl2018

very cool. as a former researcher, current medical student who plans to go into academic medicine im proud to do this


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## nogutsnoglory

The initiative update is that they are almost halfway there in terms of their recruitment. They still need to reach 10,000 people to be able to conduct viable research on IBD and genetics. 

If you haven't signed up, please consider doing so!


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## BayAreaChronie

wish they would open up the health results like it once was. Thanks FDA


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## nogutsnoglory

They are working on it. They recently got Canada to allow health info again. I think Europe allows it. They are working with the FDA to gain permission.


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## cheryl888

malorymug said:


> That is crazy!  Seems like there should be an exception for studies like this one.  It would sure be tempting to temporary become a resident of another state.
> 
> Also, I would let my representative know this law has an unintended consequences of limiting IBD genetic research.



Thank you for the great idea - I actually sent a message to both of my state senators this morning relaying this concern.  Who knows if they will do anything about it...but at least I put it out there!


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## nogutsnoglory

cheryl888 said:


> Thank you for the great idea - I actually sent a message to both of my state senators this morning relaying this concern.  Who knows if they will do anything about it...but at least I put it out there!


If it's a state law you are more apt to send it to your assemblyman and state senator not the 2 senators who vote for Maryland on a national level but the ones focused solely on state politics.


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## CrohnsChicago

Related to the DNA testing, more specifically the neanderthal percentage reporting...I thought this was a pretty interesting article:



> *Neanderthals suffered from psoriasis too: DNA study suggests ancient human cousins suffered from 'modern' diseases*
> 
> Geneticists from the University at Buffalo studied ancient human DNA
> They found genetic faults in the Neanderthal genome that cause psoriasis
> Their DNA also had errors thought to cause Crohn's Disease in humans
> Scientists believe the two diseases may have originated in a common ancestor of Neanderthals and modern humans over a million years ago
> 
> 
> Read more: http://www.dailymail.co.uk/sciencet...s-suffered-modern-diseases.html#ixzz3QsyZSBdr
> Follow us: @MailOnline on Twitter | DailyMail on Facebook


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## lookame

I signed up. I'm the only one in my family to have crohns or UC so it'll be interesting to see the results.


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## lookame

So my base genetic whatever came back and I'm confused by it but from what I understand...I have the MTHFR C677T and MTHFR A1298C mutations(in the +/-) and I guess the VDR Bms mutation (+/+)...a lot to do with vitamin b12, folate, and vitamin D...


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## Catherine

lookame

I am looking at getting my younger daughter tested for MTHFR.

Do you know whether you have single mutation or double mutation of C677T and A1298C?

Do you take folic acid?  Or have foods supplemented with folic acid?

The research is just beginning on MTHFR.


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## lookame

They are the single mutations. I haven't supplimented withings folic acid unless I was pregnant but I think I may start adding in a suppliment.

I inputted in promethese.com and it's pretty interesting seeing what I'm at a higher risk for (it also tells you basically what you look like-in my case blue eyes, straight hair, small breasts lol) things I'm at highest risk for are crohns disease, psoriasis, heart disease, diabetes, anxiety disorders, pre eclampsia, testicular/breast (and some other) cancers, macular degeneration. A lot of it could have been duduced by my relatives history but since I'm the only one with ibd in my family its very interesting seeing that I was very much at a higher risk (I think it said 2-4x higher)


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## Crohnick

lookame said:


> So my base genetic whatever came back and I'm confused by it but from what I understand...I have the MTHFR C677T and MTHFR A1298C mutations(in the +/-) and I guess the VDR Bms mutation (+/+)...a lot to do with vitamin b12, folate, and vitamin D...


We've done the 23andMe test for my son who has Crohn's and he also has the same C677T and A1298C MTHFR mutations, along with rs1544410(A;A) VDR SNP.

I wonder how prevalent these mutations are with Crohn's patients, since MTHFR seems like an important upstream player in the innate immune system's mechanism for clearing pathogens?

This is something I had looked into a few weeks back and posted in the Parents of Kids with IBD subforum:

_L-methylfolate (what MTHFR produces from dietary folate) is used in the cystein cycle to form methionine, which in turn is used to synthesize glutathione. Glutathione is a strong anti-oxidant enzyme in the body that scavenges toxins and heavy metals, getting rid of them. It also is used to make tetrahydrobiopterin. Now this is where things start getting interesting. Tetrahydropiopterin is one of the necessary co-factors for the production of nitric oxide (NO) by various nitric oxide synthases. One of these is the induced nitric oxide synthase (iNOS or NOS2), which is activated by immune system signaling to produce large quantities of NO during oxidative stress (inflammation), and infers macrophages with cytostatic and cytotoxic activity against viruses, bacteria, fungi, protozoa, helmiths and cancer cells. Sounds like this is how macrophages kill off the intruder._


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## Catherine

lookame said:


> They are the single mutations. I haven't supplimented withings folic acid unless I was pregnant but I think I may start adding in a suppliment.
> 
> I inputted in promethese.com and it's pretty interesting seeing what I'm at a higher risk for (it also tells you basically what you look like-in my case blue eyes, straight hair, small breasts lol) things I'm at highest risk for are crohns disease, psoriasis, heart disease, diabetes, anxiety disorders, pre eclampsia, testicular/breast (and some other) cancers, macular degeneration. A lot of it could have been duduced by my relatives history but since I'm the only one with ibd in my family its very interesting seeing that I was very much at a higher risk (I think it said 2-4x higher)


I am way out, my reading saying to stay away from folic acid.  You need to use the activity form.  Can't remember the name a the moment.


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## lookame

I think in my case the suppliments that may be benificial would be b12 or vitamin d, though I don't know if I'm actually deficient in either so it may or may not be worth it. I'll do some digging...


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## Crohnick

L-Methylfolate is the active form. You can get low dose over the counter or higher doses as prescription.

This is how I understand the pathway:

Folic Acid (typical vitamin B9 form) --> Dihydrofolate (dietary form) --> Tetrahydrofolate --> 5,10 Methylene Tetrahydrofolate -(*)-> L-Methylfolate.

(*) is where the MTHFR (Methyl TetraHydroFolate Reductase) gene comes into play to convert it to its final usable form.


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## SupportiveMom

The GEM project ([URL="http://www.gemproject.ca/"]) [/URL]expanded to the US and 23andMe is now contributing to this fantastic research. Since the highest risks of IBD are in North America, UK & Australia it is so important to get many participants from across the regions. 

For those in the UK you can participate too. Check out details here: http://www.gemproject.ca/2015/gem-project-recruitment-in-the-united-kingdom-has-started/

Sorry, no sight to Netherlands yet from what I have found.


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## nogutsnoglory

Hey guys just got an email update from 23&me. 5,000 have enrolled, they are halfway to their goal. 

They now will enroll existing 23&me customers as well. I think a few of you couldn't enroll because you had this problem. Now you can!


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## Sophs mom

Hi,

Does anyone know if this study is still recruiting volunteers?  For those who were accepted, did you get an email right away about them mailing you a kit or did it take a day or two?

The original link no longer works but I was able to find a sign up page when I googled 23andMe & IBD.  I was able to sign up (on behalf of my daughter), and they asked me to verify my email address (which I did), but I haven't received an email confirming they are sending us a kit.

Not sure if that's because the study is closed or they want to check with her dr. first to confirm dx.

Thanks for your help!
S


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## Eridon2002

They email you when the kit is mailed out.  I just signed up and received my kit last week.  I think it took a couple days for the first email.


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## Sophs mom

Thanks Eridon2002.  Just received the confirmation email this morning :thumleft:


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## dchad57

FYI Just tried and it says : 
Thank you to all community members who made this IBD research possible.
Enrollment for this current IBD study is now closed. We are busy analyzing data to better understand genetics and IBD. Stay tuned for updates on our findings.


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