Tell Me About The Gene Testing

[jayhawkmom]

I've already had the testing done, and my results are below. However, I'm having a real difficult time discussing the results with my family members, who have pretty much all decided that they don't care, one way or the other.

Perhaps if I better UNDERSTOOD the results, how the gene tests work, and what (exactly) the results mean, I could be more persuasive in my arguments.

But then again... perhaps now, since they just don't seem to care. Is there anything terribly basic, like a "celiac/gluten intol genes for dummies" somewhere online????

[neesee]

In all honesty, I don't think I would completely trust enterolab gene testing. They don't test for anything but the beta alleles. Kimball genetics tests for both the beta and the alpha genes. It does matter. You still don't know if you have a full celiac gene or not.

I asked enterolab why they didn't test for the alpha genes and this is their reply.

Dear Denise, Thank you for your correspondence. No, we do not test for the alpha DQ alleles. The reason behind this is that since we have been testing genetics and correlating them with our stool results for quite some time now, Dr. Fine is concluding that it actually does not make much difference at all what the Alpha allele shows. The percentage of individuals with Celiac who do not actually even have a Celiac gene is even much higher than originally thought, and Dr. Fine's impending publication should address this in much more detail. Sincerely, Phyllis Zermeno, RN, BSN Clinical Manager

Dr Peter Greene says you need both the alpha and the beta alleles to make DQ2.

If it were me, I would retest with Kimball.

Denise

[happygirl]

Open Original Shared Link

[Fiddle-Faddle]

Didn't I read here on this board that European scientists recognize several genes as being "celiac genes," while in the US they only recognize 2?

At any rate, the US medical community is so far behind on celiac, I don't trust genetics as a way to really rule out celiac--or even rule it in, for that matter. I have seen too many posts here from people who did not have the so-called celiac genes who DID have biopsy-diagnosed celiac.

[neesee]

Didn't I read here on this board that European scientists recognize several genes as being "celiac genes," while in the US they only recognize 2?

At any rate, the US medical community is so far behind on celiac, I don't trust genetics as a way to really rule out celiac--or even rule it in, for that matter. I have seen too many posts here from people who did not have the so-called celiac genes who DID have biopsy-diagnosed celiac.

Fiddle-Faddle, I have to agree. There is so much more to be learned. At least the medical profession seems to be more interested in celiac and gluten sensitivity than in the past.

But I have to add, If I were to have my genetics tested, I would choose a more complete test than enterolab offers.

neesee

[fedora]

none of the genetic tests are totally accurate. There ARE other factors involved in celiac that are still being researched.

I have found quit a few scientific articles discussing celiac and genes. About the alleles: Although DQa05,01,b02,01 on one gene is the definate DQ2 gene. b02,02 from one gene can join up with a05,01 from the other gene and form DQ2. This has been proven multiple times. Maybe that is what DR. Fine has also discovered. That the b02,01 will find something else to work with to cause celiac. In non-DQ2 and non-DQ8 scientist have found other potential elements to cause celiac. Now Seven new gene regions other than DQ have been identified! It is a new frontier!!!

JayHawk's mom,

I have done lots of genetic research this week. I also got the gene test out of concern for my family-kids and parents. Your family should understand it in simple terms. It is a genetic disease passed down through the family(although not everyone gets it, thankfully). You are concerned they may have it or be at risk. You have a celiac gene so you got it from someone!!! It would make you feel better if you knew they did not have it or were able to deal with it. Sickle cell anemia and cystic fibrosis is also genetic, wouldn't they want to get tested if you had that? If they do not listen or do not care, that is their choice. They may not be ready yet or ever. sadly, there is not much you can do about it. I do not think a complicated gene explanation will change their attitude. But if you want info, I will gladly share what I know.

I truly understand...my dad almost dies when I was 12 from severe intestional problems. my family is riddled with celiac symptoms.

Good luck,

fedora

[jayhawkmom]

Thank you, Fedora.

I surely didn't expect to log in and find posts telling me that I was wrong to test with Enterolab, that's for sure. I appreciate your non-critical response. I already know I'm gluten intoerlerant and I have a child with Celiac. I think Enterolabs gene testing is more than enough for me to go to my family and say explain that there IS a genetic component at work here.

My maternal grandather died in September, spontaneously, of an "abdominal anomaly." Undx Celiac, perhaps? He had health problems, including type II diabetes, for years and years. If the blood tests and endoscopy results (especially my daughter's) weren't enough for them to really take note, I'd hoped that the fact that I actually HAVE one (of the perhaps many) Celiac genes might actually help them to realize that it's hereditary and not just some random fluke.

Apparently others don't see it that way, or don't think my genetic testing was conclusive enough. But, in light of other issues in my family... I personally think it's more than conclusive enough.

Fedora - I'm going to pm you my email address. I'd be extremely thankful if you'd share your research with me.

[jayhawkmom]

Just to add... Dr. Peter Green also says that it's absolutely impossible to have Celiac if you don't have the genes. Yet, there are MANY folks here who DO have biopsy diagnosed celiac who do NOT have the genes. Even Fiddle-Faddle makes that statement.

I've seen Dr. Green speak, I have utmost respect for him. But, I don't think he's the ONLY doctor in the world who knows what he's talking about when it comes to Celiac.

In any case.... I wasn't trying to figure out whether or not I should "believe" the results from Enterolab. Rather, I was asking for help in discussing the results with my family members, who think that Celiac is nothing more than a "state of mind" - a random fluke in an individual.

[neesee]

Just to add... Dr. Peter Green also says that it's absolutely impossible to have Celiac if you don't have the genes. Yet, there are MANY folks here who DO have biopsy diagnosed celiac who do NOT have the genes. Even Fiddle-Faddle makes that statement.

I've seen Dr. Green speak, I have utmost respect for him. But, I don't think he's the ONLY doctor in the world who knows what he's talking about when it comes to Celiac.

In any case.... I wasn't trying to figure out whether or not I should "believe" the results from Enterolab. Rather, I was asking for help in discussing the results with my family members, who think that Celiac is nothing more than a "state of mind" - a random fluke in an individual.

According to prometheus, it's not impossible to have celiac with only DQA*0501. Something like this could account for the people here who don't seem to have any celiac genes yet do have celiac. Gluten Wrangler comes to mind.

Prometheus told Amooliakin ( over on celiac forums ) that she had half of a celiac gene. DQA*0501 and that while it was rare, it wasn't unheard of to develop celiac with this gene alone.

Anyhow Kris, I guess I misunderstood what you wanted to know. Sorry about that. You're a real nice person and I feel pretty bad to think you're upset with me

However, I'm not a fan of enterolab. Not until he publishes anyhow.

neesee

[jayhawkmom]

Anyhow Kris, I guess I misunderstood what you wanted to know. Sorry about that. You're a real nice person and I feel pretty bad to think you're upset with me

However, I'm not a fan of enterolab. Not until he publishes anyhow.

It's ok! I'm not upset with you, the whole thing is just incredibly frustrating. I'm absolutely positive my sister has Celiac. In fact, her doctor thinks so too! But, she's had the blood panel, and HER doctor says it's negative, yet... won't give her any numbers and doesn't want to test further. This is the same doctor who missed coronary artery disease in my father... who died in October. I don't want my sister to end up killing herself because she refuses to avoid wheat. Ya know what I mean?

She's dealt with debilitating migraines, constant and debilitating stomach pain, and a whole host of other health issues, her entire life. She could, potentially, avoid all of this by simply avoiding a few grains. I don't know why she won't listen. And, I was seriously hoping that seeing that I have the genes might help to get her to realize it's genetic and if I have it... it's totally possible and plausible that she might.

I just want her to look into it further, I want to have something "concrete" to offer her as "proof" that she COULD have this... it's not just some random hand fate dealt me.

I apologize for getting all worked up. It's just maddening though, ya know?

[neesee]

Oh I hear you about the stubborn relatives. Mine won't listen either! My brother says he's fine, and my dd's don't want any part of the diet. The oldest does have symptoms! Low cholesterol and belly sx's.

My son did listen and is gluten-free. His GI dr. said his biopsy was fine. His bowel just looked burned out in spots. Nothing to worry about. Ha! He has hasimoto's, elevated liver enzymes, kidney stones, high blood pressure, a heart condition, and a shunted brain cyst! And he grew to a grand total of 5'2 1/2. He's 28. my youngest.

Mom died from complications of type 1 diabetes and she had belly sx's as well as thyroid troubles. It's all there.

Good luck with your relatives. I hope you have better luck than I do.

neesee

[fedora]

DQB1*0201 (*0201) is in strong linkage disequilibrium with HLA-DQA1*0501 and HLA-DRB1*03, therefore, *0201 is almost always found in the DQ2.5 (A1:B1) genetically defined haplotype, or the DR3-DQ2 (DR-DQ) serologically defined haplotype. This beta chain allele shares stongest genetic linkage to coeliac disease, the beta chain product is one of three DQ beta chains (DQB1*0201, *0202, and *0302) that effectively present the disease causing gluten epitopes of Triticeae glutens

That is from wikipedia. What is says is DQB0201 is almost alwyas found with A0501- causing the celiac prone gene. Allele testing is more important if the peron has DQB0202, which lacks the A0501 part of the gene. DQB0202 can join up with the A0501 from another gene and form the complet celiac gene though. Two genes joining together to fight gluten.

DQB0202 and DQB0201 are identical in blood though, but not on a molecular level. DQB0202 can cause celiac on it's on. In Europe 4% of celiacs had only DQB0202 without the Allele a0501.

The scientific publications I read show definate gluten reaction with DQb0202 also on it's on, just not to the extent DQ0201 does(the celiac gene). The beta part of the gene is where the damage is being done. DQb0203 is a very rare gene.

Neesee,

you mentioned glutenwrangler...

he is double DQ1,5

sorry if I got too in depth for anyone

[neesee]

DQB1*0201 (*0201) is in strong linkage disequilibrium with HLA-DQA1*0501 and HLA-DRB1*03, therefore, *0201 is almost always found in the DQ2.5 (A1:B1) genetically defined haplotype, or the DR3-DQ2 (DR-DQ) serologically defined haplotype. This beta chain allele shares stongest genetic linkage to coeliac disease, the beta chain product is one of three DQ beta chains (DQB1*0201, *0202, and *0302) that effectively present the disease causing gluten epitopes of Triticeae glutens

That is from wikipedia. What is says is DQB0201 is almost alwyas found with A0501- causing the celiac prone gene. Allele testing is more important if the peron has DQB0202, which lacks the A0501 part of the gene. DQB0202 can join up with the A0501 from another gene and form the complet celiac gene though. Two genes joining together to fight gluten.

DQB0202 and DQB0201 are identical in blood though, but not on a molecular level. DQB0202 can cause celiac on it's on. In Europe 4% of celiacs had only DQB0202 without the Allele a0501.

The scientific publications I read show definate gluten reaction with DQb0202 also on it's on, just not to the extent DQ0201 does(the celiac gene). The beta part of the gene is where the damage is being done. DQb0203 is a very rare gene.

Neesee,

you mentioned glutenwrangler...

he is double DQ1,5

sorry if I got too in depth for anyone

Hi Fedora, No your reading isn't to in depth for me to understand. I find it to be very interesting. Here's another article that's interesting too. Open Original Shared Link

I have no idea what Gluten Wrangler's genes are. He just said he was negative, but he did test with enterolab. He could still have that alpha gene. He wasn't tested for it. Enterolab only looked for the beta part. It could explain why some of the people here test negative, but still cannot tolerate gluten.