DQ1 & Enterolab

Jeannine · Joined: 02 Apr 2005 Posts: 160

my grandson has gluten intolerance with two copies of the DQ1 gene one from his mother & one from his father (my son). I have sent off for my gene work. I already know I cannot eat gluten.

But, what irritates me at the moment is that enterolab says this is not celiac disease because he does not have DQ8 or DQ2. BUT, they say gluten intolerance will cause damage to the villa if you consume gluten.

So I pose the question, what is the difference between celiac disease & gluten intolerance? The only thing I see is the name of the gene.

Anyone else confused about this?

aklap · Joined: 02 Oct 2004 Posts: 8795 Location: WI, USA

Hi Jeannine,

GIG's explaination of CD vs Gluten Intolerance

This does a great job explaining it. But to boil it down to 2 words...Villi Damage. Currently the medical definition of CD is villi damage. Without villi damage you generally will not get a dx of CD (some docs are a bit more progressive in this). That's the problem...many people have gluten issues, but most docs will not recognize gluten intolerance as a possibility. No villi damage...no need to stop eating gluten. Shocked

I am not greatly versed in the gene stuff...but I do know that DQ1 is considered a gluten sensitivity gene. DQ2 & DQ8 are the genes assoc. with CD. Maybe Steph can shed some better light on this.

http://www.enterolab.com/What_Happens/
Why are gene results so complicated, and which genes predispose to gluten sensitivity/celiac sprue?
Gene tests for gluten sensitivity, and other immune reactions are HLA (human leukocyte antigen), specifically HLA-DQ, and even more specifically, HLA-DQB1. The nomenclature for reporting HLA gene results has evolved over the last two decades as technology has advanced. Even though the latest technology (and the one we employ at EnteroLab for gene testing) involves sophisticated molecular analysis of the DNA itself, the commonly used terminology for these genes in the celiac literature (lay and medical) reflects past, less specific, blood cell-based (serologic) antigenic methodology. Thus, we report this older "serologic" type (represented by the numbers 1-4, e.g., DQ1, DQ2, DQ3, or DQ4), in addition to the integeric subtypes of these oldest integeric types (DQ5 or DQ6 as subtypes of DQ1; and DQ7, DQ8, and DQ9 as subtypes of DQ3). The molecular nomenclature employs 4 or more integers accounting together for a molecular allele indicated by the formula 0yxx, where y is 2 for DQ2, 3 for any subtype of DQ3, 4 for DQ4, 5 for DQ5, or 6 for DQ6. The x's (which commonly are indicated by 2 more numbers but can be subtyped further with more sophisticated DNA employed methods) are other numbers indicating the more specific sub-subtypes of DQ2, DQ3 (beyond 7, 8, and 9), DQ4, DQ5, and DQ6. It should be noted that although the older serologic nomenclature is less specific in the sense of defining fewer different types, in some ways it is the best expression of these genes because it is the protein structure on the cells (as determined by the serologic typing) that determines the gene's biologic action such that genes with the same serologic type function biologically almost identically. Thus, HLA-DQ3 subtype 8 (one of the main celiac genes) acts almost identically in the body as HLA-DQ3 subtype 7, 9, or other DQ3 sub-subtypes. Having said all this, it should be reiterated that gluten sensitivity underlies the development of celiac sprue. In this regard, it seems that in having DQ2 or DQ3 subtype 8 (or simply DQ8) are the two main HLA-DQ genes that account for the villous atrophy accompanying gluten sensitivity (in America, 90% of celiacs have DQ2 [a more Northern European Caucasian gene], and 9% have DQ8 [a more southern European/Mediterranean Caucasian gene], with only 1% or less usually having DQ1 or DQ3). However, it seems for gluten sensitivity to result in celiac sprue (i.e., result in villous atrophy of small intestine), it requires at least 2 other genes also. Thus, not everyone with DQ2 or DQ8 get the villous atrophy of celiac disease. However, my hypothesis is that everyone with these genes will present gluten to the immune system for reaction, i.e., will be gluten sensitive. My and other published research has shown that DQ1 and DQ3 also predispose to gluten sensitivity, and certain gluten-related diseases (microscopic colitis for DQ1,3 in my research and gluten ataxia for DQ1 by another researcher). And according to my more recent research, when DQ1,1 or DQ3,3 are present together, the reactions are even stronger than having one of these genes alone (like DQ2,2, DQ2,8, or DQ8,8 can portend a more severe form of celiac disease).

_________________
Al

“We cannot all do great things, but we can do small things with great love.” Mother Teresa

Jeannine · Joined: 02 Apr 2005 Posts: 160