<<Disclaimer: Verify this information before applying it to your situation.>>
I received 13 supportive and informative replies to my question regarding
casting a wide net for genetic testing of Celiac Disease. The two most
pertinent replies have already appeared on the list, from Shelley Case and
from Roy Jamron, the latter of which is included below with all the details,
not just the link he provided to the list. Several people suggested that I
contact Prometheus Lab (1-800-423-5227), and that is exactly what I plan to
do next week. It was also suggested that I call the University of Chicago
Celiac Disease Program and ask for their information sheet "How Can I Find
Out If I Have Celiac Disease?", which explains gene testing, blood tests,
and endoscopic biopsy (773-702-7593).
Others mentioned success through Dr. Fine's laboratory as well
(www.finerhealth.com).
I will post my findings once I have spoken with these three labs about the
newer HLA allele (A*0201)which thus far has been positive for all of the
negative DQ2/DQ8 biopsy- proven CD patients. If this test is not yet
available, I suppose we will simply start with the most economical test for
the DQ2 and DQ8 - we may hit paydirt with that anyway.
I have been unable to track down the source, but I am certain that I read
somewhere that a good 10% of biopsy-proven celiac patients do not test
positive for DQ2 or DQ8, so I would not consider a negative result a
definitive answer, particularly considering my son's history which was
consistent with CD on so many fronts, not the least of which is the fact
that everything (but the dental enamel defects) resolved on the gf diet
(anemia, low Vit A, steatorrhea, low D-xylose, easy bruising, migraines with
episodic dyscontrol, etc.). Furthermore, an attempted challenge four years
ago was disastrous and had to be cut short after one week, which had been
enough to cause GERD as per the scoping three weeks later. It started out so
well that I was in disbelief - could not imagine he would ever be able to
eat gluten again -then the switch got flipped, the debilitating heartburn
set in, and his behavior turned violent and destructive. This is not
something I ever want to endure again, but am willing to do the genetic
testing in order to provide him with some validation for his clinical
diagnosis of Celiac Disease.
No responders had ever heard of all the extra tests that Lab Corp of
America does. I suppose the thing to do there is to call them again and ask
for some references (1-800-533-1037), but it would appear to be more cost
effective to simply seek the three well known genes.
Thanks again to all who replied.
Hilary
From Roy Jamron:
Subject: Re: gene testing question
The following abstract describes what you need to genetically test for to
see if one is susceptable to CD. Unfortunately, there is no published full-
text of this article:
The American Journal of Gastroenterology, 98: 9 (Supplement 0) Sept 2003
A new HLA allele (A*0201) accounts for DQ2/DQ8 negative genome screening in
celiac disease patients
Barbara Bizzarri, Sandro Drago, Mariarosaria Di Pierro, Anna Sapone, Debbye
Kryszak, Carlo Catassi and Alessio Fasano
Purpose: HLA class II alleles DQA1*0501/DQB1*0201 are the antigen
presenting cells surface receptors for deamidated toxic gliadin fragments.
Despite that their presence is considered necessary for celiac disease (CD)
pathogenesis, these two alleles account for only 90-95% of the genomic
pattern of CD HLA class II DQ2/DQ8 haplotypes. It has been recently
reported that HLA DQ2 haplotype can be coded by the previously undescribed
A*0201 allele. Aim of the present study was to verify whether patients
classified as DQ2/DQ8 negative harbor the A*0201 allele both in the
European and North American populations.
Methods: The HLA typing was performed in biopsy-proven CD patients using
the Eu-DQ Kit (Eurospital, Trieste-Italy). This Kit contains multiplex PCR
reactions for DQa1*0501, DQa1*0201, DQß1*0302, and DQß1*02 primers, with
beta globin primer as internal control. The amplicons obtained were
resolved on 2% agarose gel and stained using ethidium bromide.
Results: The results are shown in the Table. Both in the American and
European populations the A*0201 allele accounted for the previously-
described DQ2/DQ8-negative CD patients.
U.S.A. EUROPE
CD Patients Controls CD Patients Controls
Total (N) 78 40 100 60
HLA distribution (%)
DQ2 (A*0501/B*02) 57.69 22.50 58.00 23.33
DQ2 (A*0501- A*0201/B*02) 17.95 5.00 16.00 3.33
DQ2 (A*0201/B*02) 7.69 5.00 5.00 5.00
DQ2/DQ8 (A*0501/B*02 & B*0302) 7.69 10.00 8.00 5.00
DQ2/DQ8 (A*0201/B*02 & B*0302) 0.00 5.00 1.00 1.67
DQ8 (B*0302) 8.97 15.00 12.00 5.00
DQ2/DQ8 negative 0.00 37.50 0.00 56.67
Conclusions: Our data showed that A*0201 allele accounts for all DQ2/DQ8
negative, biopsy-proven CD patients. These results suggest that this allele
should be included for the appropriate genomic screening of CD patients.
Affiliations:
Ancona, Italy.
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