Question About Gene Results

[MLB]

These results are not new, I got them about 9 months ago so I've been on a gluten/dairy free diet since then. I just assumed i wasn't celiac from the gene results but could i still have celiac with these genes?

Fecal Antigliadin IgA 58 (Normal Range <10 Units)

Fecal Antitissue Transglutaminase IgA 28 Units (Normal Range <10 Units)

Quantitative Microscopic Fecal Fat Score 1279 Units (Normal Range <300 Units)

Fecal anti-casein (cow

[ravenwoodglass]

Yes. Not all the genes for celiac are recognized in this country. While in the US DQ2 and DQ8 are thought to be the only genes research has recently found 7 others.

I was firmly diagnosed celiac 5 years before I did gene testing. Fortunately, since in the US my particular gene would have deemed me to have RA and the docs would have stopped looking there. I did have testbook symptoms of RA but they went into remission along with a lot of other things gluten free.

[Mother of Jibril]

My understanding is that for people who don't have DQ2 or DQ8, DQ7.5 puts you at the highest risk for celiac disease... and you have two copies of DQ7. Take a look at the Wikipedia DQ7 page:

Open Original Shared Link

You might be able to guess (based on the related disorders) what kind of DQ7(s) run in your family. 7.3 and 7.5 are the most common. For example, 7.3 is associated with narcolepsy and gum disease, but nobody in my dad's family has those problems... they do, however, have lots of problems with allergies and fungal sinusitis (a DQ7.5 trait).

The only way to know for sure is to have your alpha genes tested. Kimball and Prometheus will do that. Unfortunately, it's more expensive than Enterolab... I think about $350 for Kimball. The best thing would be if you could get insurance to pay

[Lisa16]

I have the DQ7 and DQ6 and I have it (diagnosed). They did a study in Europe and found that 2% of the celiacs they tested there had the 7 (and not the 2 or 8).

If I were you, if I were symptomatic with these genes and I responded to the diet I would consider myself a celiac.

Welcome to the club!

[MLB]

Thank you all. This is really interesting. Especially since one of my children ( i have 3 ) has a such a strong gluten reaction. She had daily stomach aches and headaches and they went away overnight on the gluten-free diet. I didn't have her gene test done but we did igg testing and it showed gluten/dairy reaction. The other 2 don't have symptoms but I had them tested anyway and the igg test showed no reaction to gluten.

Does anyone have a link to the research that is finding new celiac genes? Thanks!

[Lisa16]

Thank you all. This is really interesting. Especially since one of my children ( i have 3 ) has a such a strong gluten reaction. She had daily stomach aches and headaches and they went away overnight on the gluten-free diet. I didn't have her gene test done but we did igg testing and it showed gluten/dairy reaction. The other 2 don't have symptoms but I had them tested anyway and the igg test showed no reaction to gluten.

Does anyone have a link to the research that is finding new celiac genes? Thanks!

Each of your kids will have at least one of the genes. That means they could all develop it. The one that is symptomatic, tests positive and reacted positively to the gluten-free diet is also celiac. You will need to watch the others like a hawk and this must always be your first consideration if they get sick. The genes can kick in later and nobody knows why. I see lots of gluten-free food in your futures!

Good luck!

[MLB]

Thanks again for your reply. So what (if anything) should I tell our primary care docs? I have not told them about our tests, diet, etc. In fact, we haven't been to the dr because we've been so healthy.

[nora-n]

Open Original Shared Link there are many with half a gene.

DQ7,5 has 05* in the alpha chain, and half a celiac gene (DQ2,5 has 05* in the alpha chain)

Oddly peple never come here telling us they ahve half a gene, I guess labs do not report it and thus miss it....just speculating.

[kellylynn]

I'm also double DQ7. I see that you have 3 kids...have you ever had fertility problems...amenorrhea or endometriosis?

I was diagnosed through Enterolab and don't have an official Celiac diagnosis.

Thanks!

[Lisa]

I was diagnosed through Enterolab and don't have an official Celiac diagnosis.

I assume you mean that your tests results through Enterolabs were for a gluten sensitivity. Enterolabs cannot/does not diagnose.

[gfb1]

Open Original Shared Link there are many with half a gene.

DQ7,5 has 05* in the alpha chain, and half a celiac gene (DQ2,5 has 05* in the alpha chain)

Oddly peple never come here telling us they ahve half a gene, I guess labs do not report it and thus miss it....just speculating.

not to be a stickler... but, you can't have "half a gene". on 2nd thought, i suppose you could --- but, then more than likely the gene would not be functional (see Open Original Shared Link). pet peeve alert: there is also NO such thing as a celiac gene; unless you are talking about some very early work implicating a glutaminase (probably/possibly a variant of a glutamine-recognizing endopeptidase, that is incapable of cleaving the gliadin amino acid sequence contained in gluten).

one problem with the research cited is that there are no negative controls. that is, individuals without celiac disease, who have the relevant alleles. this is why the same haplotypes are often associated with other immune-related diseases.

[kellylynn]

I assume you mean that your tests results through Enterolabs were for a gluten sensitivity. Enterolabs cannot/does not diagnose.

Yes...positive results for gluten sensitivity. My obgyn thinks I should just follow the diet and see if my periods return and bone density improves and sees no need for an official diagnosis, since I already see improvements in brain fog/gastrointestinal symptoms. He's actually the one that suggested the Enterolab test.

[gfb1]

Yes...positive results for gluten sensitivity. My obgyn thinks I should just follow the diet and see if my periods return and bone density improves and sees no need for an official diagnosis, since I already see improvements in brain fog/gastrointestinal symptoms. He's actually the one that suggested the Enterolab test.

'bone density'??

be very careful with measurements for bone density. there are a variety of ways that bone density can be estimated; however, these measurements change very slowly and have a fairly wide range of error. see Open Original Shared Link.

btw -- even in elderly women, weight bearing exercise also significantly increases bone density (on the order of a 5-10% increase after 1 year).

one other thing;

imho, celiacs should also periodically have their blood iron/zinc levels checked (generally iron is easiest to check by looking at hemoglobin/ferritin/even packed cell volume... zinc is a little more difficult/specialized).

it appears that in some celiac patients iron absorption is impaired -- perhaps due to damage to the intestinal membrane or some shared metal-transporter. hair loss; which i have seen mentioned several times in these forums, can be due to zinc-deficiency (which is transported by some of the same proteins that move iron into the bloodstream).

[nora-n]

gfb1, what you say is not quite right.

If you read up on celiac and HLA DQ, then you will find just after half an hour or earlier, that there are half genes.

That is because for example the main celiac gene is 0501 in the alpha chain, and 0201 in teh beta chain.

It is well known that several celiac only have the 05* in the alpha chain. Also, a study of sardinian celiacs show that many have DQ7, whose alspha chain is---taramtata--05*.

These are not speculations, these things are described in many papers.

The pubmed abstract I linked to, shows that about 6% have half a gene.

About functional: Of course those people have other molecusle in the beta chains, and do have another HLA DQ gene, made up of another alpha and beta chain.

You can read up on the alpha and beta chains at wikipedia where there are good charts, type in HLA_DQ and HLA-DR.

Also, the person with half the gene posted here, her name here was half full. She is functional....just look for her thread. Sh had access to the whole article and posted excerpts from it.

There are several works that show how parts of the gluten molecule bind to the celiac genes, that is DQ2 and DQ8. They have made computer animated images that show how they are threedimensionally and how gliadin or whatever locks unto it.

I am sure you can find them in pubmed, and the full articles are eccessible for everyone. I have seen them.

[Gentleheart]

Well, if you smell smoke, you first get out of the building. You don't stand around discussing how the fire might have started. That severe malabsorption is certainly occurring from something. But you've done the right thing by getting rid of the gluten and dairy. If you indeed decide that you are sensitive to gluten (celiac or not), don't get tripped up by your genes. There will continue to be lots of debate about that among scientists for years to come, I suspect.

[gfb1]

gfb1, what you say is not quite right.

If you read up on celiac and HLA DQ, then you will find just after half an hour or earlier, that there are half genes.

That is because for example the main celiac gene is 0501 in the alpha chain, and 0201 in teh beta chain.

It is well known that several celiac only have the 05* in the alpha chain. Also, a study of sardinian celiacs show that many have DQ7, whose alspha chain is---taramtata--05*.[snip]

understood.

its a question of terminology.

you can have 1/2 a protein; partial functional elements, etc. but, NOT 1/2 a gene. 1/2 a gene is a non-functional gene.

a haplotype is NOT half a gene...

a haplotype is a pattern of alleles (or genes) in the human major histocompatibility complex (MHC) locus/loci, which defines which antigens are recognized by T cells.

[nora-n]

yes

In celiac jargon, a 05* in the alpha chain is popularly called half a gene....

Some celiacs only have 0201 in the beta chain without the 05* alpha chain, they are half DQ2 too.

In total there are about 6% of celiacs (in Europe) with some kinds of half celiac genes.

nora

[MLB]

I'm also double DQ7. I see that you have 3 kids...have you ever had fertility problems...amenorrhea or endometriosis?

I was diagnosed through Enterolab and don't have an official Celiac diagnosis.

Thanks!

Hi,

Yes, we struggled with infertility. My 3 kids were conceived with lots of help - In-Vitro Fertilization. We have severe male factor problems and they were not able to find anything "wrong" with me, but that doesn't mean it doesn't exist. I have regular periods, ovulation, etc. My eggs were not the greatest quality for being so young (first IVF at 22) - I'm not sure if that has to do with gluten issues or not.

I hope everything turns out well for you.

[MLB]

Well, if you smell smoke, you first get out of the building. You don't stand around discussing how the fire might have started. That severe malabsorption is certainly occurring from something. But you've done the right thing by getting rid of the gluten and dairy. If you indeed decide that you are sensitive to gluten (celiac or not), don't get tripped up by your genes. There will continue to be lots of debate about that among scientists for years to come, I suspect.

Yes, you are right, it doesn't really matter in the long run. I'm happy to report that I just got retested thru Enterolab and my malabsorption score is normal (<300)! I guess I'm most curious for genetic reasons, and a bit because people don't take me seriously not having actual Celiac. I get everything from "it's just a fad" to "if you tell yourself you'll be fine eating it, you will" to "you're just scared, relax".