GLUTEN INTOLERANCE GENES - RS2187668-CC, RS7454108-TT - Question 1


#1

Anyone with rs2187668, CC genotype and rs7454108, TT genotype have confirmed celiac disease?
Almost all of my primary relatives have celiac, and it has long been assumed that I have it too…however, I have seen statements that someone with my genotypes should NOT have celiac.


#2

I don’t have celiac or gluten sensitivity as far as I know and I have these markers/


#3

I have both of these markers but have not been tested for celiac. I finally figured out the gluten connection 12 years ago when I was in my early 50’s after more than half a lifetime of digestive issues. I’m scrupulous about avoiding gluten as I don’t enjoy nausea, bloating, and the 3 a.m. chills. I did experiment with eating sourdough einkorn wheat a few years back with success, but for now I don’t want to risk more damage. The experiment did make me wonder what role intestinal permeability, current agricultural practices, and nontraditional preparation of wheat products contributes to my gluten intolerance.


#4

Hi pdxgirl. I am a practitioner that specialises in the genetics of celiac disease and gluten intolerance. I have written a number of posts on my blog about these mutations and celiac disease which will explain in detail about these genes and celiac disease
http://www.idnahealth.com.au/celiacs-disease-and-gluten-intolerance.
Anyone with rs2187668 CC and rs7454108 TT cannot develop celiac disease and are also not gluten intolerant. You must have a mutation in either of these genes to be at risk of developing celiac disease.


#5

Hi Della. If you have a mutation in either rs2187668 and rs7454108 you are at risk of developing celiac disease, will be gluten intolerant and have to 100% avoid gluten forever. Depending upon how many total mutations you have and in which genes, will determine the degree of gluten intolerance and degree of immune response. The major issue with mutations in either of these genes is that you are also at high risk of multiple autoimmune conditions. I am a practitioner specialising in genetics. I have a number of blog post that discuss this area.


I would recommend you order your personalised report for these mutations (I charge AUS $45.00) that will assess your presentation of your gene mutations and how that impacts on your specific risk of celiac and autoimmune diseases. You can contact me through my website if interested. Avoiding gluten does not resolve your autoimmune disease risk here.


#6

Hi Patricia. If you have a mutation in either one of these genes you are gluten intolerant and at risk of celiac and many other autoimmune diseases. I have replied to some of the other posts on this topic but I would suggest you read all the posts on my blog about these mutations and ensure you are 100% gluten free. You will be gluten intolerant, but gluten intolerance can manifest in many ways. I am a practitioner who specialises in this area. You can also order your personalised report. Contact me through my website if you are interested in your personalised gluten intolerance report.


#7

Thank you for taking the time to respond. I’ll check out your blog post with interest.


#8

Hi SDPOz - here’s my confusion: my mother, maternal aunt, and maternal grandfather all have/had severe celiac disease. I have had an inconclusive biopsy (I was not 100% gluten free at the time, but was eating a mostly gluten free diet) and weakly positive IGA and positive IGG results. I was pretty surprised at my DNA results and even more to read your comment. I had heard it would be difficult to have celiac with my markers, which is why I posted my question. I would be interested in your opinion as to whether there is ANY possibility that I have celiac or I can go back to enjoying gluten products with impunity.

The same side of my family with celiac also has a VERY strong history of auto-immune disorders and I have some of the genes for lupus, etc.


#9

Hi pdxgirl

If you do not have either of the gluten intolerance mutations the
research indicates you cannot develop celiacs disease. I would not
recommend you just start having gluten. You should work with a
practitioner and go through this systematically. There are some other
immune gene mutations and reaction to bacterial components that can
cause you to react to gluten and trigger some issues with the gut. Here
your reaction to gluten is secondary not primary. You need to screen
this. You may not be intolerant to gluten but you may be intolerant to
lectins. You should also investigate this, especially if you react when
you trial gluten. With your family history of autoimmune diseases you
should also investigate the various other genes associated with the
autoimmune diseases prevalent in your family. It is not enough to know
you have the genes, you must understand the clinical relevance of each
of the mutations so you can target your protocol and manage the risk
they pose. If you can’t find a practitioner close to you, I consult with
patients all over the world via skype of phone consult. You can contact
me if you want to set up an appointment.

.


#10

I was warned not to have gluten by a very reliable GI specialist, stating that I am gluten intolerant. I look like a basketball with legs if I cheat. My cousins have it as well.


#11

deleted I made a mistake in posting


#12

These variants don’t cause gluten sensitivity. You might have celiac, but it’s not these variants that caused it. When looking at your variants, you need to be looking at the frequency. No variant that’s found in 40-50% of the population is going to cause disease activity. You need to be looking at the RARE ones. If Livewello is your only source of raw data interpretation, you’re not going to find them because they can’t decipher the variants with an “I” at the beginning, only the “rs” variants.


#13

Just to clarify - my AncestryDNA raw data shows that I have RS2187668-CT, RS7454108-TC. Are these the mutations that have been mentioned above?


#14

Thank you! Any suggestions on other raw data interpretations of the genes that cause celiac?


#15

Anyone with rs2187668 CC and rs7454108 TT cannot develop celiac disease and are also not gluten intolerant. You must have a mutation in either of these genes to be at risk of developing celiac disease.quote=“SDPOz, post:4, topic:175”]

SDPOz
You state “Anyone with rs2187668 CC and rs7454108 TT cannot develop celiac disease and are also not gluten intolerant. You must have a mutation in either of these genes to be at risk of developing celiac disease.”

Are you sure? I have both SNPs and am severely gluten intolerant. In fact I was diagnosed with Celiac Disease about 1932, by my symptoms, long before it was known that gluten caused Celiac Disease.

23andMe reports that I have a risk for Celiac Disease because I have rs6822844 GG, rs6441961 TT, and rs9851967 CC. How can I have a risk for Celiac Disease by having these SNPs when you state I must have a mutation in either of these genes (rs2187668 CC and rs7454108 TT) to be at risk of developing celiac disease? That does not make sense to me.

In one of your posts you state that a person trying to screen for Celiac Disease may need a colonoscopy. My physician always used an endoscopic exam to see if I was gluten free. Do you know of anyone who has been diagnosed with Celiac Disease by a colonoscopy?

[/quote]


#16

I don’t have either of the 2 major Celiac indicator genes, but I do have severe gluten sensitivity.


#17

Geobob. Before I answer further can you please confirm your genotype for both rs2187668 and rs7454108


#18

SDPOz,

My 23andMe Celiac Disease • Health Risk report shows that I have HLA-DQA1-rs2187668 CC with a 0.48 Adjusted Odds Ratio for Celiac Disease. The Raw Data shows I have rs7454108 TT.

Perhaps I should have mentioned that I have a dermatitis herpetiformis reaction whenever I ingest any gluten.


#19

Geobob, just because you have those SNPs, thT doesn’t mean they’re the cause of your celiac. Those SNPs are not mutations! They are variants. Your celiac is probably being caused by a mutation not tested for on 23andme, but it’s not being caused by common variants that everyone has


#20

They have not yet discovered all the genes responsible for Celiac, so if you don’t have either of the 2 discovered genes, you actually can still have Celiac!