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AliB

Dna Testing - Dq2 & Dq8

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Now then, this may be a bit controversial.

Those of you who have got to know me over the past few weeks will know that I have a very analytical mind. I have an overwhelming need to know 'why'.

I have been giving this 'testing' problem a good deal of thought and investigation and have drawn a few conclusions.

Apparently 92-98% of those diagnosed with Celiac carry the DQ2 gene, and 2 - 8% carry the DQ8.

We know that many who have negative IgA blood tests are often picked up as positive through biopsy. We also know that there may be some who are actually Celiac but have been missed because they have tested negative for both blood and biopsy, simply because the damage to the gut has not reached a point either where enough antibodies have formed nor a biopsy has picked it up. We also know that there may be some who have been diagnosed as Celiac because their blood and biopsy has indicated such, although their illness may only be due to extreme gluten intolerance.

The point is, what if the DNA test IS actually the most accurate test because those that are TRULY Celiac are only those who carry the correct gene - either the DQ2 OR the DQ8? That one of them may be the marker for true Celiac, whilst the other is the marker for gluten intolerance (or another as yet unidentified condition presenting as GI!).

They both have similar presentations and the same or very similar solutions, but are they actually two different syndromes?

The only way for the proper identification to be made would be for full DNA testing to be done on a significant proportion of those who are already diagnosed and complete symptomatic and systematic profiling to be made in order to determine the pattern and establish the correct genetic marker. To my understanding that does not appear to ever have been done. Which marker would those who also have strong indicators of Celiac like DH or type 1 Diabetes carry, for instance?

I did think about asking for a DNA test myself, but if I don't know which category is the true marker for Celiac then I am still none the wiser. If one parent has the correct genetic marker then there is obviously a strong chance that any children will carry the same gene.

Whilst it is important for the correct identification to be made, both conditions are extremely debilitating in their own right and it is not fair for one to be excluded in favour of the other.


Ali - 50 - struggled with what I now know to be GI symptoms and poor carb digestion for at least 35 years! Diabetic type II (1997). Mother undx Celiac - lifelong diabetic Type 1 & anemic (plus 1 stillborn and 10 miscarriages after me). Father definitely very GI.

Stopped gluten & dairy, Jan 08, but still other issues so dropped most carbs and sugar and have been following the Specific Carb Diet (SCD) since March 08. Recovery slow but steady and I can now eat a much broader range of foods especially raw which are good for my digestion and boost my energy level.

Not getting better? Try the SCD - it might just change your life.........

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I think which genes you have is very good information to have.

You are correct, the only the docs care about is if you have a positive biopsy. Those that have positive biopsy are never tested to see which genes they have. Also, those that have negative biopsy do not get gene tests either. AND, only two labs in the U.S. test for the gluten intolerant genes, Enterolab.com is one of the two labs.

My mother who had at least one DQ1 gene (& probably 2) died of colon cancer. No one ever looked for villi damage or gluten intolerant genes. Looking back on her symptoms & illnesses before she got colon cancer, I know that she was a lifelong sufferer of gluten intolerance. although she suffered from mental problems and depression her whole life she somehow managed to struggle thru. I look back & wonder really how she did it...

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Yes, I just wish there was a way to more clearly diagnose. As a double DQ2 who didn't have blood work or biopsy before going gluten-free, I just have nagging questions. I don't mind staying gluten-free now that I've adjusted but would love to not have to be so exacting about CC. I don't have clear symptoms and have a lot of other things going on, so I'm not like some people who can tell absolutely when they have been glutened.


4/2007 Positive IGA, TTG Enterolab results, with severe malabsorption: Two DQ2 celiac genes--highest possible risk.

gluten-free since 4/22/07; SF since 7/07; 3/08 & 7/08 high sugar levels in stool (i.e. cannot break down carbs) digestive enzymes for carbs didn't help; 7/18/08 started SCD as prescribed by my physician (MD).

10/2000 dx LYME disease; 2008 clinical dx CELIAC; Other: hypothyroid, allergies, dupuytrens, high mercury levels

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Genetics is in it's infancy. Not all people with full blown celiac have those two genes. Relying on whether you have those two genes for diagnosis could result in a lot of suffering and disability. If I relied on gene testing I would still be taking multiple meds every day just to survive, notice I didn't say live. Gene testing would have the doctors in this country diagnosing me with RA. After all that is what my gene is considered to be here. After a total remission of all my autoimmune disorders gluten free I am living proof that genes are not the be all and end all of diagnosis. They can be a helpful tool, but research is ongoing as to what all the genes are that are resposible for our difference.

It is a misconception that people that are 'gluten intolerant' need to be less restrictive in their diets and are less likely to be effected by CC. We need to be just as strict as someone with gene defined celiac, and some of us are more sensitive to cc than gene defined celiacs. I am one.


Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying

"I will try again tommorrow" (Mary Anne Radmacher)

Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002

Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis

All bold resoved or went into remission in time with proper diagnosis of Celiac November 2002

 Gene Test Aug 2007

HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

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Yes it is in its infancy and not enough is known about it unfortunately.

I read something incredibly interesting last night. There is a school of thought that whilst approximately 20% of the population can tolerate carbohydrate, 80% can't.

It kind of makes a lot of sense. I have always recognised that I do not cope with carbohydrates in any form, not just gluten, very well, particularly sugar.

The only times I have been well is the 2 periods in my life when I was eating low-carb. Unfortunately it did not work totally as I was still eating some gluten, so I am, as from today going back to the very low-carb way losing gluten into the bargain. Interestingly, whilst I had a dreadful problem with dairy, particularly with catarrgh and mucous, I have had a coffee today with full cream milk but without sugar, and had little in the way of mucous.

I knew cream and sugar to be a problem, but always thought it was the cream, but now I realise it was the sugar, the carb. I will stay low dairy until I have the Candida under control, but hopefully I will be able to go back to it eventually.

It may be that when those who are gluten intolerant realise they are also dairy intolerant, it isn't actually the dairy that is causing the problem but the carbohydrate and sugar they consume with it or around it and those who have dropped gluten yet are still ill may find that they finally get relief when they drop carbohydrate completely.

Despite what the low-fat gurus would have you believe, fat is essential for life. Our bodies convert fat to fuel. If we eat carbohydrate, instead of using the fat for fuel the body uses the carb which is a short-term fix. The fat then gets hived off into storage for use at a later date and so the cycle goes on and the more problem we have with weight. The body gets all it needs from protein and fat and any beneficial (low-carb) vegetables and fruits.

The book I am reading is 'Eat Fat and Grow Slim' by Richard Mackarness. It was published originally in the late 50's so this is not new. Others followed, like Atkins, but Mackarness went back to basics right from Banting through Eskimos and research of their lifestyle. I have seen evidence recently to show that a diet consisting almost exclusively of fish, meat and fat keeps the indigenous eaters healthy and fit, with little or no disease and low cholesterol. Only those who supplement the good foods with carbs and sugar are the ones with cholesterol problems and illness.

Fascinating. I will be interested to see what my Cholesterol level is when I have my blood test done next week. I had a cooked low-carb breakfast this morning and even though I had no insulin (I am diabetic), my blood sugar only raised 40 points from 110 - 150. (6.2 - 8.2). I usually have to take at least 2 x 20 units a day. Having to go without sweet things will be hard, but I will get used to it. At least I can have fruit and cream!


Ali - 50 - struggled with what I now know to be GI symptoms and poor carb digestion for at least 35 years! Diabetic type II (1997). Mother undx Celiac - lifelong diabetic Type 1 & anemic (plus 1 stillborn and 10 miscarriages after me). Father definitely very GI.

Stopped gluten & dairy, Jan 08, but still other issues so dropped most carbs and sugar and have been following the Specific Carb Diet (SCD) since March 08. Recovery slow but steady and I can now eat a much broader range of foods especially raw which are good for my digestion and boost my energy level.

Not getting better? Try the SCD - it might just change your life.........

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I think genetic testing is certainly helpful, but not the end all.

30-40% of the American population has one or both of the genes.

1 in 133 Americans (slightly less than 1%) is estimated to have Celiac.

Also, ~5% of 'true' Celiacs do not carry one of the genes. There have been biopsy-proven Celiacs on this board who don't have the genes, and we've had board members who do carry the gene, who don't have Celiac/nor does the gluten-free diet trial help their symptoms. I think the genetic testing can be a useful diagnostic tool, in conjunction with (some or all) an educated patient and doctor, correct blood tests, properly-performed biopsies, and dietary response.

You wrote, "We know that many who have negative IgA blood tests are often picked up as positive through biopsy." Can you clarify this for me....which IgA test? And what about IgG based tests?

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I'm new here and this is all very interesting as we have a 4 1/2 year old who has just yesterday been Dx'd as Asperger's Syndrom with possible other complications. She is to go for further testing to Chicago to a new autism clinic that has just been set up for DNA testing.

This little girl is adopted and we have very little medical history on her bio parents. After all I have read I feel she is Celiac and gluten intolerant. The doctor wasn't very pleased when he heard I felt she had AS from my investigation on the internet, so I could hardly tell him I had already investigated Celiac and gluten-free information, also! But they are going to test her for that among other things such as Fetal Alcohol Syndrom. She was also born with cocaine in her system. She has a lot of things going against her, but she is a bright little girl and strong willed!

I just want to be well informed and do what I have to to make her life the best it can be. It is work! It is a whole different kind of life than I am used to, I'm going to be 56 this year, and I feel I haven't even lived yet after knowing I have to change my lifestyle for this youngster. But I will, and I should, it's for my health, my husband's and her's!

I'm glad there is a place I can come to learn and grow, and to share some of my fears.

Shymom5

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I think genetic testing is certainly helpful, but not the end all.

30-40% of the American population has one or both of the genes.

1 in 133 Americans (slightly less than 1%) is estimated to have Celiac.

Also, ~5% of 'true' Celiacs do not carry one of the genes. There have been biopsy-proven Celiacs on this board who don't have the genes, and we've had board members who do carry the gene, who don't have Celiac/nor does the gluten-free diet trial help their symptoms. I think the genetic testing can be a useful diagnostic tool, in conjunction with (some or all) an educated patient and doctor, correct blood tests, properly-performed biopsies, and dietary response.

You wrote, "We know that many who have negative IgA blood tests are often picked up as positive through biopsy." Can you clarify this for me....which IgA test? And what about IgG based tests?

Hmm. Well, you may be able to have the four standard tests over there in the States, but all that seems to be done here in the UK, well certainly in my case was IgA and tTG. My test was negative - I never got as far as a biopsy as I needed to stop the gluten immediately. Many have testified to the fact that although their blood testing came back as negative, they were diagnosed as Celiac due to the damage to the intestine picked up by biopsy which is why sometimes doctors will suggest a biopsy even if the blood test is negative, just to establish. The negative blood results could be false positives due to lack of available IgA in the blood - it is possible the stool test may pick those up better but that it also somewhat moot.

What I am saying is that if the blood test comes back negative and the biopsy is negative it still does not mean that an individual is still not Celiac (and being missed), especially if it is still in its 'dormant' or 'silent' form. Conversely, another individual could have both a positive antibody test and a positive biopsy due to the amount of damage to the intestine, but this could just as easily be due to gluten intolerance rather than Celiac (or even an inability to process carbohydrate properly, which would encompass gluten). There are several different types of test available but unfortunately, so far, none of them are truly definitive - whilst they can help build a picture in certain cases, in others they allow true sufferers to fall through the net.


Ali - 50 - struggled with what I now know to be GI symptoms and poor carb digestion for at least 35 years! Diabetic type II (1997). Mother undx Celiac - lifelong diabetic Type 1 & anemic (plus 1 stillborn and 10 miscarriages after me). Father definitely very GI.

Stopped gluten & dairy, Jan 08, but still other issues so dropped most carbs and sugar and have been following the Specific Carb Diet (SCD) since March 08. Recovery slow but steady and I can now eat a much broader range of foods especially raw which are good for my digestion and boost my energy level.

Not getting better? Try the SCD - it might just change your life.........

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I'm new here and this is all very interesting as we have a 4 1/2 year old who has just yesterday been Dx'd as Asperger's Syndrom with possible other complications. She is to go for further testing to Chicago to a new autism clinic that has just been set up for DNA testing.

This little girl is adopted and we have very little medical history on her bio parents. After all I have read I feel she is Celiac and gluten intolerant. The doctor wasn't very pleased when he heard I felt she had AS from my investigation on the internet, so I could hardly tell him I had already investigated Celiac and gluten-free information, also! But they are going to test her for that among other things such as Fetal Alcohol Syndrom. She was also born with cocaine in her system. She has a lot of things going against her, but she is a bright little girl and strong willed!

I just want to be well informed and do what I have to to make her life the best it can be. It is work! It is a whole different kind of life than I am used to, I'm going to be 56 this year, and I feel I haven't even lived yet after knowing I have to change my lifestyle for this youngster. But I will, and I should, it's for my health, my husband's and her's!

I'm glad there is a place I can come to learn and grow, and to share some of my fears.

Shymom5

Hi Shymom! Good detective work so far. Keep it going! Your little girl is lucky to have you working it our for her. If the doctors you are talking to don't want to listen, change doctors. Good luck and welcome.

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I'm new here and this is all very interesting as we have a 4 1/2 year old who has just yesterday been Dx'd as Asperger's Syndrom with possible other complications. She is to go for further testing to Chicago to a new autism clinic that has just been set up for DNA testing.

Do try the diet with her even if testing does not show full blown celiac. Many Aspies do get some resolution of symptoms with the gluten and casien free diet. I do hope you give the diet a good six months trial before you decide it isn't doing any good. It may not 'cure' her but it could make life a lot easier.


Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying

"I will try again tommorrow" (Mary Anne Radmacher)

Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002

Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis

All bold resoved or went into remission in time with proper diagnosis of Celiac November 2002

 Gene Test Aug 2007

HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

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