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Genetic Test Results Are Confusing!


organicmama

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organicmama Contributor

I've had these results for a bit and find that I still really don't understand them. In talking to medical professionals, they talk about my set of genes as predisposing me to neurological problems rather than classic GI symptoms. I also thought that they said a minority of patients in Dr. H's (long named gluten researcher) studies had celiac with this gene set, but I'm not sure of that.

I have full access to medical research, journals, etc. and would love to learn more. However, I don't get the lingo enough to research properly. The summary indicates two copies of gluten intolerant genes and that they are not the classic celiac combo. Can someone help interpret please?

HLA-DQB1 Molecular analysis, Allele 1


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organicmama Contributor

Thanks so much. That is great info. I remember reading an article where a small minority were not DQ2 and DQ8. Where several members in a confirmed small celiac group had other genes. I have to find that again!

organicmama Contributor

Found it! Here's a quote from the article.

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"Eight of the 122 celiac disease patients lacked both the heterodimer and the DRB104 alleles; therefore, we further screened the DQB1 locus to investigate if other alleles were present in association to celiac disease (2)(14). Two of these eight celiac disease patients showed the DQ2 molecule (DQB10201 allele in heterozygosis); but one of them carried also the DQB10501 allele, also found in Sardinian patients to be associated to celiac disease (15); four showed the DQ7 molecule (DQB10304 or DQB10301 alleles). Another patient carried the DQ8 molecule encoded by the DQB10302 allele, and the remaining patient had the haplotype DQB10501 in homozygosis (15). The DQ8 molecule seems to be an alternative to DQ2 in influencing susceptibility towards celiac disease, being present in up to 20% of celiac patients not bearing of DQ2 in the Mediterranean area (2)(14)(16). Our data do not support an earlier finding that HLA-DQ7 is a nonsusceptible molecule (2). In fact, DQ7 was present in 50% of our celiac disease patients in the absence of the heterodimer and of the DRB104 alleles. Because the DQ7 molecule is very similar to the DQ8 molecule, it could alternatively present similar gluten-derived peptides to restricted T cells (17). DQ7 has been detected in a few celiac disease cases in the absence of DQ2 but in association with the DRB104 alleles (18)."

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