Genetic Testing Results

[jcc]

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/0106/0106cover_story.pdf

Also, you may be interested in reading the Genetic Testing (http://jccglutenfree.googlepages.com/genetictesting) page of The Gluten File.

[jcc]

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 had 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.

[annelb]

I did not have genetic testing, but my children did. The testing was done through Enterolab.

Younger son
Molecular analysis: HLA-DQB1 0604, 0302
Serologic equivalent: HLA-DQ1,3 (subtype 6,8)
This means that he has one of the main CD genes (DQ8) and a gene for gluten sensitivity (DQ1)

Older son
Molecular analysis: HLA-DQB1 *0201, 0604
Serologic equivalent: HLA-DQ 2,1 (subtype 2,6)
He also has the gluten sensitivity gene (DQ1) and same subtype as his brother. He has the other main celaic gene (DQ2)

I decided with this information I did not need a genetic test. I have a main CD gene and DQ1 subtype 6. Interesting to me is that their father has these genes too.

Anne

[RathyKay]

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.

[GFPaperdoll]

From Enterolab:
I am HLA-DQB1 - 0303 & 0603
my notes read: I find this part confusing, So I am not sure my notes are right... I made them a couple of years ago...
0303 = DQ3 subtype DQ9
0603= DQ1 subtype DQ6

my son's son is :
HLA DQB1 - 0301 & 0303
my notes read:
0301= DQ3 subtype DQ7
0303= DQ3 subtype DQ9

I will have gene tests back in a few weeks for my 1/2 sister & for my grand-daughter.
my son's daughter: (same as her brother)
HLA DQB 0303 & 0301
Serological Equivalent HLA DQ3,3 (subtype 9,7)

My half sister:
HLA DQB1 0303 & 0501
Serological Equivalent HLA-DQ 3,1 (Subtype 9,5)

[kaylee]

I've been wanting to add to the thread on diagnostic journies, but time feels so scarce right now ... The genetic testing was a part of the journey, though, so:

I did do genetic testing, for my son and myself, when I was trying to piece all the various signs of food-related problems together and our pediatrician was so unabatingly unhelpful (at what point unhelpful becomes harmful is perhaps the question). Part of me hoped the test would reveal a gluten sensitivity predisposition so as to be reassured that this was not "all in my head" (even if I knew it wasn't - I just felt very alone and worried and really, really wanting some form of external validation), but of course another part of me wanted there to be nothing of the the sort, with the hope that maybe in a month or so the problems would all just go away.

I can't find the records for my own testing, although I know I've got the DQ2 gene. I've probably got the same as my son's, which show:

Molecular Analysis: HLA-DQB1*0201, 0602
Serologic equivalent: HLA-DQ2,1 (subtype 2,6)

Kevyn

[lmb3]

I have never been tested, but here are my kids:

DD - Age 13 - DQ2
DS - Age 7 - DQ2 dx with Celiac Disease
DD - Age 4 - DQ2 and DQ8 dx with gluten intolerance - for now

I wonder how much it would cost to do my genetic testing. There's no need to do it other than to satisfy curiosity. :rolleyes:

[Zonulin]

Ooo! Page 1 again! - RathyKay :D

Ted's symptoms were constant nausea/vomiting/weight loss - our only clue that his illness was gluten-related was an antigliadin IgG antibody test, which showed 69 (with the normal range topping out at 20). This Enterolab test was done July 2004:

Molecular analysis: HLA-DQB1*0501, 0604

Serologic equivalent: HLA DQ 1, 1 (Subtypes 5, 6)

Interpretation: Although you do not possess the main genes predisposing to celiac sprue (HLA-DQ2 or HLA-DQ8), HLA gene analysis reveals that you have a copy of a gene that predisposes to gluten sensitivity (HLA-DQ1) involving the DQB1*0501 subtype.

Karen

[diamondheart]

... or so I've been told. More of those pesky DQ1 genes. My story is on the Diagnostic Journeys (http://brain.hastypastry.net/forums/showpost.php?p=19318&postcount=7) thread.

HLA-DBQ1*0501,0501
Serologic Equivalent: DQ 1,1 (Subtype 5,5)

Other related family gluten sensitive links (?): Asperger's syndrome (nephew), Sjogren's syndrome & lupus (aunt)

Claire

[klasyjo]

I've only had three specific genetic tests done
HLA DQ 2 Positive
HLA DQ 8 Negative
HLA DQB1 -(dq-)
HLA B27 Negative

[MotherMoon]

Samantha was tested through enterolabs with HLA-DQB1*0503, 0603. She strongly reacts to gluten. Beth reacts neurologically. And, I have a variety of symptoms both gastro and neuro. I have debated getting us the genetic testing. Money is the issue.

[OZZ]

Mom DQ2, DQ 1, 0603
Dad DQ2, DQ8
Bro1 DQ2, DQ8
Me(OZZ) DQ2, DQ1, 0603
Sis1 DQ2, DQ8
Sis2 DQ2, DQ2
Bro2 DQ2, DQ1, 0603
Bro3 DQ2, DQ1, 0603
Bro4 DQ2, DQ1, 0603

DD2 DQ2, DQ1 ?
DD1 ?
DS ?
DH ? DQ1 ?

I am a DQ2 and DQ1 (0603)
DX June 2005 positive bloodwork and biopsy
Many neurological problems which I think come from the “0603”.
Still have positive tTG and EMA after one year of strict dieting but I think next test will show lower numbers.

As you can see I have a whole family with the Celiac DNA, only Brother2 has been tested and said he was negative, but I wonder.

Brother 1 and Brother 4 both have Type 1 Diabetes. Our family was involved in some genetic testing many years ago for diabetes.

Also Me and Brother 2 were born with cleft palates which means my Mom was probably Celiac and folic deficient.

Dad and Brother1 both have prostrate cancer. Dad’s brother died of Prostate Cancer.

Mom’s sister was dx with Lupus although she doesn’t think she has it, probably Celiac.

[canoe]

I am finding this very interesting. I tested with Enterolab in 2005. I am
Molecular analysis : HLA DQB1 0201, 0502
Serological type : DQ2, DQ1 (sub type 5).

As a child I did deal with lazy eye, and was very clumsy , and I find jcc's comments about that interesting. I also deal with Hashimoto's thyroiditis, osteopenia, and asthma. I can't help but wonder if I had been tested earlier whether I would be dealing with some of these problems.

I am assuming that my sons probably also carry one of the genes, but neither are willing to test. The one is dealing with T2 diabetes, diet controlled and I wonder if he is GS.

Marilyn