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Dutch Research Team Identifies Specific Genes Responsible for Celiac Disease

Gastroenterology, Oct 2003, Vol 125, No 4, p1032-41

Celiac.com 10/30/2003 – A Dutch research team has identified the specific regions of chromosome 19 that contribute to celiac disease. Despite its well-known association with human leukocyte antigen (HLA)-DQ2 and DQ8, the pathogenesis of celiac disease has remained largely unknown. The team studied 82 Dutch families who met strict diagnostic criteria which included biopsies that presented Marsh III lesions. The 216 independent celiac disease patients were compared to 216 age and sex-matched controls.

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As expected the study found significant linkage to the suspected HLA region, but more importantly found additional, previously unknown and significant linkages at 19p13.1 (with a peak at marker D19S899), and at 6q21-22, which is ~70 cm downstream from the HLA region in question. The researchers conclude: "Significant linkage of celiac disease to chromosome region 19p13.1 was detected in our genome-wide screen. These results were confirmed by the association of D19S899 to celiac disease in an independent case-control cohort. Furthermore, we identified a possible second celiac disease locus on chromosome region 6q21-22."

The study was dedicated to the memory of Lodewijk Sandkuijl (1953-2002), who died shortly after its completion. He was an inspiration to the researchers and was a world expert on biostatistics.

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The only symptom I know of that is celiac for certain is dh, which must be diagnosed by a dermatologist.

I have both eoe and celiac and now that I have been gluten free for 18 months, my anemia is gone. It is good to get off the iron supliments because mine may have been the cause of my ulcers. It feels good to recover and heal! I may work my way down to fewer supliments and lots of feel great da...

Your daughter does not have a strong positive. I suspect that the GI might do as RMJ suggested which would be to load her up on gluten for six months and retest. On the other hand, with a diagnosed sibling and a very mild positive, your GI might recommend the endoscopy or run the test again to ...

I was diagnosed with celiac last year on an endoscopy looking for the cause of my anemia. At the time, my GI doc tested m for EoE and it was negative. Fast forward 11 months, I developed sudden heart burn, dysphagia out of the blue. My doc thinks it's EoE. Biopsy was last week and I am still wait...

No, the control test is to verify that she will react to that particular type of test. If she didn't, then certain of the bloods would not be applicable to her. They would be false negatives. As far as tests being weak positives, that's like being a little pregnant. A positive is a positive....