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The Lovebug

Need Help Understanding Genetic Test Results

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Although I've been gluten free for several years, my new GI doctor wanted to do the "new" genetic test from Prometheus labs and I got the results yesterday. I have the DQ8 heterozygous haplotype. According to the paperwork, about 95% of celiacs have the DQ2 and only 5% have the DQ8. Is there a difference in these two in terms of severity of symptoms, age of onset, racial/ethnic group, etc.? Does heterozygous mean that the gene came from one parent, vs. the homozygous coming from both? What are the chances my children inherited the gene from me? My doctor didn't seem to have good answers about these things. He described my risk of having celiac, based on these results, as "moderate," and said that my case would not be as severe as someone whose risk is "very high." Well, my symptoms were anything but moderate in the 6 years I experienced g.i. distress before I was self-diagnosed 5 years ago! But I certainly don't fit the profile of the skinny, undernourished waif that I see described so often. Could it be that the 5% of us with the DQ8 genotype are the ones of us who are overweight instead of underweight?

Any help here would be appreciated.


Self-diagnosed in 2004 after 6 years of hell. Doing well on gluten-free diet, but still having occasional bouts of accidental glutening. Message board has been a godsend. Have been on since 2004 as "grannynanny," but couldn't recreate password and was shut out, having to re-register in 2007. Update: Gastroenterologist wanted to do genetic test for celiac (Mar 2008). Results showed genetic marker on G8 -- one of two genes identified as Celiac.

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Could it be that the 5% of us with the DQ8 genotype are the ones of us who are overweight instead of underweight?

I don't know the answer to any of your questions, except this last one. I'm have DQ2 - and I'm overweight. In fact, it wasn't until I went on the gluten-free diet, about a year after the birth of my 3rd child, that I finally started losing weight. Up until that point, I could not move an ounce of "baby weight."

I've had weight issues my entire life. I have a sister who's skinny as a rail. Both of my parents are thin. I've always carried an extra 50 or so lbs, until I went gluten free. Amazing.


Jayhawkmom -

Mom of three....

Jay - 11

Bean - 8

Ian - 3

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Hi.

You have one copy of the DQ8 gene. It came from ONE of your parents. The only way to know for sure which one is to have both of them DNA tested. Your children may or may not have gotten the DQ8 from you.

Most celiacs have the DQ2 gene, but most celiacs are not underweight(according to statistics). This is a outdated stereotype. Some are underweight, some normal weight, some overweight.

My physician's assistant still thinks you still have to be severly skinny...I got irratated, but since I was there just for my women's exam I let it go....for now.

I am normal weight, but when I was super sick with celiac symptoms as a preteen and teenager, I was overweight. As an adult it was been hard for me to lose weight even though I am active and eat fabulous. The week I went off gluten I lost 2 pounds!! I have to fight tooth and nail to lose 2 pounds normally. I have lost a few more since then, but I wasn't overweight(just almost)

I do not agree with the doctor that your case would not be as severe as someone with a high risk. Everyone's body reacts differently. If you react to gluten, your body doesn't go "we only have one celiac gene, not two, so lets only get moderately sick." That is not how it works.

You have the gene, it was triggered into reacting to gluten, you got sick. There are people with no celiac gene who have biopsy confirmed celiac. My friend has no celiac genes and has biopsy confirmed refractory sprue.


gluten . . . Kiss my grits!

pork and beef free- 1994

wheat free or wheat light- 2003

gluten free- January 2008

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