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08-25-2006, 10:43 AM | #1 | ||
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Junior Member
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My daughter just got her results back and she has the dq2 gene. The pediatric GI said that you need both genes to be diagnosed celiac. I keep reading conflicting information about the genes. Because she has one of the genes, does this make her more susceptible to celiac? Or do you need both genes to be considered at risk.
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08-25-2006, 10:51 AM | #2 | ||
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There's only one gene that seems to be proof against gluten sensitivity, according to Dr. Fine. That is if you have double DQ4.
Even if you have one copy of a gene it can become active. Your pediatrician needs to go back to school. :\ |
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08-25-2006, 12:36 PM | #3 | ||
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Junior Member
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My daughter was tested for dq2 and dq8. What is dq4?
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08-25-2006, 12:53 PM | #4 | ||
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I'm just saying, that any gene except DQ4 is one that is associated with either celiac or gluten sensitivity, according to Dr. Fine.
But in a nutshell, if you've got 2 genes you're more likely to develop celiac, but having one gene doesn't exclude you from it. http://www.enterolab.com/Lecture/Lecturenew/frame.htm This paper is good too: http://www.enterolab.com/StaticPages/EarlyDiagnosis.htm Here's from his slides from his lecture: Research Supporting Non-Celiac Gluten Sensitive Genes •DQ1,3 found more commonly in MC and RA –DQ3 subtypes are: DQ7, DQ8, DQ9 •DQ1 found more commonly in gluten ataxia •DQ9 binds and reacts to gluten in vitro •Only DQ4 seems not to increase risk of GS –Rare in U.S. - 13% heterozygous, 0.4% homo. And here's from his FAQ: Quote:
Last edited by NancyM; 08-25-2006 at 12:58 PM. |
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08-25-2006, 03:14 PM | #5 | ||
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Senior Member (jccglutenfree)
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http://www.clanthompson.com/exp_doct..._category_id=4
This says 'either' mother or father. Not BOTH mother and father. I think your doctor is mistaken to say that two copies of a predisposing gene must be present to develop Celiac Disease. When the above reference says "HLA DQ2/8" it should read HLA DQ2 OR HLA DQ8, not DQ2 AND DQ8. I have also heard having two predisposing genes may further increase your risk of developing the disease, but only one copy is needed. You certainly don't need both types of genes...as in both DQ2 AND DQ8. 30% of the general population carries one of these two predisposing genes. Only 1% of the general population go on to develop Celiac Disease (as defined by villous atrophy). Many people who don't have Celiac Disease have symptoms related to gluten sensitivity . That is the part our doctors don't always tell us. Has your child also had the antibody tests run? Do any other family members have Celiac Disease? Are there symptoms that look like gluten sensitivity/celiac disease? Cara P.S. I always cringe a little bit when I hear some of the experts completely rule out Celiac Disease by the absence of DQ2 or DQ8. It is supposedly extremely rare (1% of the 1% who develop Celiac Disease), but I have crossed paths with two people who are antibody positive/ biopsy proven Celiacs with a genetic type of HLA DQ1. Unfortunately, you don't see much about that in print. I'd hate to be the individual with a missed diagnosis based soley on being the exception of statistics.
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. Last edited by jccgf; 08-25-2006 at 03:53 PM. |
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08-25-2006, 03:37 PM | #6 | ||
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Senior Member (jccglutenfree)
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Here we go...this might help:
http://www.enabling.org/ia/celiac/cel-hla.html Or it might not...lol...anytime I read the technical papers about genetics my brain just checks out. If anyone knows of any more references in plain text, please post!
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. Last edited by jccgf; 08-25-2006 at 03:51 PM. |
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08-25-2006, 07:17 PM | #7 | ||
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Nancy thank you for this great info.
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Thanks! Rachel |
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