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Celiac Disease Genes (vs. gluten intolerance genes)

May 2013

Q: If someone has the Celiac gene, does it mean they currently have Celiac disease?

There are differing opinions when it comes to the activity of Celiac genes: on one hand scientists say that they have to be “turned-on,” but on the other hand they say damage to the intestines can be silent.  Science is still fleshing this out but it is likely that initially the genes have to be turned on by a stressful event, but once turned-on they don’t turn back off despite symptoms disappearing.  If someone had a negative blood antibody test looking for gluten intolerance but they are positive for the gene, it could mean a couple things.  It could mean that the person’s gene hasn’t “turned-on” yet or they could be one of those people who never produce high numbers of those antibodies.  Some people who are gluten intolerant never produce high numbers of blood antibodies despite severe symptoms and for some other people it takes a long time (years) for them to produce increased blood antibodies.  You can always do a stool test for gluten antibodies and a fat mal-absorption test, which is more accurate in diagnosing gluten intolerance than blood tests, especially for early illness.  However, if someone is IgA deficient (i.e. their body doesn’t produce the IgA antibody), which we can determine by a blood test, then both the blood test and stool test will be inaccurate.  (FYI: there are only 2 known mutations to the HLA-DQB gene that determines if someone is Celiac; however, there are numerous mutations that determine if someone is gluten intolerant.  Being gluten intolerant is not the same as being Celiac even though the outcome is the same which is to stay away from eating gluten.)