Epidemiologic studies testing large numbers of normal, healthy people from the population at large have established both the prevalence of the HLA-DQ2/DQ8 genes as well as the prevalence of celiac disease (from those with highly positive tTG).
(Updated .)Keyword: genes
Are certain combinations, or lack thereof, of genes tied to certain symptoms?
Studies have for the most part failed to show a simplistic relation between the type of HLA gene involved (i.e., DQ2 vs. DQ8) and types of symptoms.
(Updated .)Can you have celiac disease without having the genes for it?
This topic raises much debate. The current thought shared by the many physicians and scientists is that 1-2% of celiacs may not possess the celiac-specific genes HLA-DQ2 and/or DQ8. Our Dr. Guandalini and Dr. Bob Anderson, chief scientific officer of ImmusanT, believe the genes are necessary to initiate the immunologic response of celiac disease, hence… Read more »
(Updated .)Are family history and genetics important in diagnosing celiac disease? And, if so, how should I decide whether to have a biopsy?
Family history and genetics are important, but they don’t determine whether an endoscopic biopsy should occur. They merely help you determine whether you’re in an at-risk group, or not. Read our “Diagnosis of Celiac Disease” Factsheet to learn more.
(Updated .)Are there autoimmune disease genes different from those that make you at risk for celiac disease?
Yes, some autoimmune disease genes are common, but not all. You can have an autoimmune condition, but if you lack HLA-DQ2 or DQ8 then it is highly unlikely that you will ever have celiac disease.
(Updated .)If you have the genes for celiac disease but your biopsy is negative is non-celiac gluten sensitivity still possible?
Yes, non-celiac gluten sensitivity is a possibility, but it has no link with the genes associated with celiac disease. It can be diagnosed through an elimination diet supervised by a medical professional.
(Updated .)Do most people with celiac disease have the gene turned on at birth?
For celiac disease to develop, you don’t just need the gene(s), but also the contribution of several environmental factors (the first one being gluten, of course), hence the fact that celiac disease can appear at any time and at any age for those who have the gene(s).
(Updated .)What percentage of those with the genes will develop celiac disease?
Less than 5% of those with one or both genes will develop the disease.
(Updated .)If no one else in my family has celiac disease, could I have developed the genes instead of inherited them?
Genes aren’t “developed,” they’re inherited. The family members who don’t have the disease may still have the gene(s) for it.
(Updated .)Are having the genes and symptoms enough to diagnose celiac disease?
No. Many people have the genes and the symptoms, but do not have the disease. It’s difficult to diagnose because the symptoms are common to many health disorders. In addition, nearly 1/3 of the population has at least one of the genes and many never develop the disease.
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