the patient celiac

What does it mean if I have a celiac gene?

0 comments September 30, 2017

What does it mean if I have one of the celiac genes?


Does it mean that I definitely have celiac disease? No


Does it mean that I will eventually develop celiac disease? Not necessarily


Does it mean that I need to go gluten free? No


I’ve been asked about genetic testing for celiac disease more times than I can count over the last five years, so I finally decided to make time to write about it!


The two genes associated with celiac disease are HLA-DQ2 and HLA-DQ8. Over 95% of people with celiac disease have one or two copies of either celiac gene.  


The confusing part is that most people who carry the celiac genes do not have celiac disease, nor will they ever develop celiac disease. Up to 30-40% of those of Northern and Western European ancestry carry at least one celiac gene, but only 3% of celiac gene carriers will go onto develop celiac during their lifetime (as opposed to 1% for the general population). A lot of people, including both doctors and patients, do not understand this, in large part because the the development of celiac is in such contrast to many other genetic diseases.


Some examples of how celiac differs from other genetic diseases:


-If a child has two copies of a gene for an autosomal recessive disorder, such as cystic fibrosis, he or she will certainly be born with cystic fibrosis. Celiac disease is not autosomal recessive so it does not follow this pattern.


-Autosomal dominant disorders, such as Huntington’s disease, develop if an individual inherits only one copy of the Huntington’s gene. Celiac disease is not autosomal dominant, therefore, most people with one celiac gene do not develop celiac.


-Environmental factors play a large role in why people who carry DQ2 and/or DQ8 develop celiac. This is in contrast to autosomal dominant and autosomal recessive diseases, like in the above examples, which are present regardless of environment. Numerous studies, including the CDGEMM study at Mass General, are underway to investigate which environmental factors may contribute to celiac disease development.


To reiterate, if I child inherits a celiac gene, he or she does have a risk of developing celiac disease (but in most cases will not). It can be beneficial to know a child’s celiac gene status to determine whether or not he or she should be monitored and screened for celiac disease.  As I’ve previously discussed, children of parents with celiac disease should be screened for celiac via blood tests every two years or so starting around age 3.  But, if you’ve had your child genetically tested, and know that the celiac gene is not present, you can probably opt out of screening and testing.


For more info on genetic testing, you can check out the University of Chicago Celiac Disease Center FAQ page.


For more info on the CDGEMM study, please follow this link.


Thank you for reading and sharing. I really miss interacting with all of you on a regular basis like I used to be able to do :)

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