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Ask the Doc: Can I have celiac disease if I don’t have the celiac genes?

Posted By Alison On Jan 2, 2010 @ In Ask the Doc | 2 Comments

Q. I just had a blood test to test for genetic predisposition to celiac because my mother is a celiac and I have a lot of the same symptoms. It came back negative and I am just wondering if it is possible to still have it. My doctor has completely ruled it out based on the test. Have you any idea what percentage of celiacs have no genetic markers?

A. The genetic tests for HLA DQ2 and HLA DQ8 account for 95% of celiacs. Celiac disease itself by the classical definition (positive anti tTG and EMA antibodies and a Marsh III biopsy) only accounts for half of all patients who are sensitive to gluten. There are a number of genes that are not currently tested for in clinical practice that have been associated with gluten sensitivity.  We currently are ignorant of their precise actions. You probably would benefit from a gluten-free diet.

Health and happiness,
Dr. Aron

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