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Influence of HLA-DQ2 and DQ8 on Severity in Celiac Disease

Celiac.com 03/14/2012 - A group of researchers recently studied the ways in which HLA-DQ2 and DQ8 might influence the severity of celiac disease. Specifically, the team wanted to study HLA-DQA1 and DQB1 profiles in adults with different forms of celiac disease, including adults with complicated and potential celiac disease, the most seriously affected, and those with the best preserved histologic end of the pathologic celiac spectrum.

Photo: CC - rdecomThe researchers included F. Biagi, P.I. Bianchi, C. Vattiato, A. Marchese, L. Trotta, C. Badulli, A. De Silvestri, M. Martinetti, and G.R. Corazza. They are affiliated with the Coeliac Centre/First Department of Internal Medicine, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Italy. 

Patients with complicated celiac disease showed more HLA-DQB1*02 homozygosity than those with uncomplicated celiac disease.

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The team conducted HLA-DQA1 and DQB1 molecular typing for 218 adults with celiac disease. Of these, 169 had uncomplicated celiac disease, 27 had complicated celiac disease, and 22 had potential celiac disease. They used 224 healthy stem cell donors as a control group.

The team analyzed HLA-DQA1 and DQB1 gene polymorphism using polymerase chain reaction sequence-specific primers and/or reverse polymerase chain reaction sequence-specific oligonucleotides. They found, as expected, that the frequency of HLA-DQB1*02 allele, DQB1*02 homozygosity, and DQB1*0302 gene were statistically different in the four groups.

However, multivariate analysis showed that patients with potential celiac disease have a higher frequency of both HLA-DQB1*0302 and HLA-DQB1*0603 alleles, along with a reduced frequency of DQB1*02 homozygosity, as compared with patients with uncomplicated and complicated CD.

The increased frequency of DQB1*0302 coupled with the reduced frequency of DQB1*02 homozygosity in potential celiac disease supports the idea that variations in clinical/pathologic expressions of celiac disease might reflect different immune system triggers. This observation could impact the way in which celiac disease is understood and studied in the future.

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3 Responses:

 
angelie
Rating: ratingfullratingfullratingfullratingfullratingfull Unrated
said this on
19 Mar 2012 7:03:21 PM PDT
I learn more.

 
Daiane
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said this on
19 Mar 2012 8:08:54 PM PDT
Excellent

 
Rhonda Jared
Rating: ratingfullratingfullratingfullratingfullratingfull Unrated
said this on
03 Apr 2012 12:42:07 PM PDT
2 copies of HLADQ8, 0302. Not sure what that means - allergy or celiac?




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It seems like you really need a concrete or near concrete answer so I would say maybe you ought to get the gene testing. Then you can decide on the gluten challenge. Thanks! I am convinced our dogs are there waiting for us. Meanwhile they are playing, running, laughing, barking & chas...

I can't help thinking that all of this would be so much easier if the doctor I went to 10 years ago would have done testing for celiac, rather than tell me I probably should avoid gluten. He was looking to sell allergy shots and hormone treatment, he had nothing to gain from me being diagnosed ce...

Most (90%-95%) patients with celiac disease have 1 or 2 copies of HLA-DQ2 haplotype (see below), while the remainder have HLA-DQ8 haplotype. Rare exceptions to these associations have been occasionally seen. In 1 study of celiac disease, only 0.7% of patients with celiac disease lacked the HLA al...

This is not quite as cut & dried as it sounds. Although rare, there are diagnosed celiacs who do not have either of those genes. Ravenwoodglass, who posted above, is one of those people. I think she has double DQ9 genes? Am I right Raven? My point is, that getting the gene testing is not an...

Why yes it is! jmg and myself are NCIS, I mean NCGS specialist/experts or is it NCGI people ourselves. posterboy,