Genetic Testing Results
 

For those of us who have had the genetic testing done, it is interesting to share and compare :cool:.

95% of all those with celiac disease will show one of two genetic markers, HLA DQ2 (90%) or HLA DQ8 (5%). As many as thirty percent of the population carry this genetic makeup but only one percent develop Celiac Disease.

Another marker, HLA DQ1, has been identified by both Dr. Kenneth Fine and Dr. Marios Hadjivassilou as being associated with a Non-Celiac Gluten Sensitivity. While those who carry HLA DQ1 rarely show villous atrophy, it does happen on occasion. About 1-2% of biopsy proven celiacs carry the HLA DQ1 gene, so it may be questionable practice to rule out Celiac Disease soley by the absence of the main genes (HLA DQ2 or HLA DQ8).

While HLA DQ1 is not recognized by most celiac experts as being associated with celiac disease, Dr. Hadjivassilou has found it in 20% of his gluten sensitive (antigliadin positive) neurological patients. The remaining 80% have either HLA DQ2 or HLA DQ8 consistent with the celiac population.


Found this article from one of Anne's posts~

Genetic Testing for Celiac Disease by Edwin Liu, MD
http://www.mlo-online.com/articles/0...over_story.pdf

Also, you may be interested in reading the Genetic Testing page of The Gluten File.

I did the genetic testing a year after my daughter and I had gone gluten free, just to satisfy my curiosity. I was sure with my strong family history of autoimmune disease and my daughter's remarkable response to a gf diet that we would have a main celiac gene. WRONG.

Both my daughter J and myself have double copies of HLA DQ1. This means that both my mother and father had at least one copy, and also that my husband carries at least one copy.

My youngest daughter J definitely had neurological symptoms related to gluten ingestion (periods of weakness/ limp body fatigue, staggering, leg drag, drooping eyelids and a lazy eye, slurred speech (just once), swallowing difficulties (2-3 times), incontinence (2-3 times). These symptoms were fleeting and brief and months apart in the beginning, but were becoming more regular as time went on. I was beginning to see some things like the leg drag and lazy eye on a weekly/daily basis. These all cleared within the first months, and I have not seen a return...except for an early (in the first months gf) gluten error resulted in a staggering episode.

I had neurological symptoms, too, but those seemed to be related to B12 deficiency, and cleared when correcting the deficiency a year before I went gluten free. My childhood was 'clumsy' and my older daughter's neurologist felt that my frequent fainting spells may actually have been seizures..but we will never know! My older daughter has history of seizures. We haven't done her genetic testing, but we know she has at least on copy of DQ1 because I have two). Hope you can follow all that!

Daughter J
Molecular analysis: HLA-DQB1 *0603, 0603
Serologic equivalent: HLA-DQ 1,1 (subtype 6,6)

Self:
Molecular analysis: HLA-DQB1 *0603, 06034
Serologic equivalent: HLA-DQ 1,1 (subtype 6,6)

Family history is very strong for Hashimoto's thryoiditis. My father has insulin dependent diabetes, and I presumably have pernicious anemia (although my antibody tests were negative as they are in 25%).

Dr. Hadjivassiliou and Dr. Fine's recognition of HLA DQ1 as being predisposed to gluten sensitivity, although rarely celiac disease, seems to explain my family.

Me, not a carrier of either gene, no Celiac present blood test, total IgA normal - totally weird b/c I'm 50% Swedish, we thought for sure it was me.
My dh is DQ2 - no Celiac present blood test, total IgA normal (mother Irish mix, father English mix)
My ds1 is DQ2 - no Celiac present blood test, total IgA normal. However, metabolic test are identical to his brother who is Celiac and he has lost weight in the last year, already was below the 5th percentile. I'm putting him GF very soon and he has finally agreed.
My ds2 is DQ2, IGG positive on blood test, IgA deficient, no biopsy, finally thriving on GF diet since Sept 05. He is Celiac IMO and in the off the record opinion of Dr. Fasano.
My dd has not been test yet, will at some point run procautionary test. She has a few symptoms, but eats little gluten due to our household arrangements.

Everyone but me in the household reacts to Oats and that has been specifically linked to DQ2s.

The lab test I'm refering to are Prometheus Celiac Disease Panel of test, which included the gene test for either DQ2 or DQ8. I do not know if there are 1 copy or 2 copies present. I am guessing Dr. Fine does a better job on that detail. I am suspicious that my dh is 2 copies.

Identical copies of gluten sensitive gene
 

From Enterolab:

HLA-DQB1*0501, 0501
Serologic equivalent: HLA-DQ 1,1 (Subtype 5,5)

Claire

Ooo! Page 1 again!

We tested Tom back in February.
Molecular analysis: HLA-DQB1*0503, 0605
Serologic equivalent: HLA-DQ1,1 (subtype 5,6)
This means he has two genes for gluten sensitivity (DQ1). Tom has neurological issues. He leans toward the constipated side and I don't think he'd ever get a "celiac" diagnosis. Removing gluten seems to have cleared up some brain fog for him. He seems more mature and we're seeing an increase in his developmental progress... all good things worth going gluten free. Someday, I plan to test Samantha and Claire and myself. Mr. Kay has no interest in testing, but we may be able to figure him out by process of elimination.

HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0501

Serologic equivalent: HLA-DQ 2,1 (Subtype 2,5)


Tested through enterolab. Celiac panel bloodwork neg after a month long gluten free diet and several months "low gluten". (I did try to consume some gluten again before the bloodwork, but it didn't really get a chance to do much damage. Well, not enough to trigger the test anyways. Did make me miserable.)