With the advent of advanced molecular genetic testing, doctors are now more than ever able to identify chromosomal disorders either directly or indirectly linked to a disease. One of these isceliac disease.Laguna Design / Getty ImagesUnlike some conditions in which a positive result is directly associated with the symptoms of a disease, a positive result for aceliac gene testsuggests the likelihood—rather than certainty—of disease. In most cases, the likelihood will be small.Identifying the Celiac GenesTwo chromosomal mutations, known asHLA-DQ2andHLA-DQ8, are commonly associated with celiac disease.By definition, HLA (human leukocyte antigen) is a cellular protein that triggers an immune response. With celiac disease, aberrations in the HLA coding can cause the immune system to go haywire in the presence of gluten and attack cells of thesmall intestine.Despite the fact that HLA-DQ2 and HLA-DQ8 are both linked to this effect, having the mutation doesn’t necessarily mean that you’ll get the disease. In fact, about 40% of the Eurpid, or caucasian, population has one of these mutations. Of those who do carry the mutation, only around 1% will develop the disease in their adult years.All told, around 1 of every 133 people in the U.S. will get celiac disease in one form or another with symptoms ranging from serious tovirtually non-existent.What Happens If You Test PositiveTesting positive for either HLA-DQ2 or HLA-DQ8 does not mean you have to change your eating habits unless you havesymptoms of the disease(includingdamage to the villithat line the small intestines). The test will simply tell you that you have a propensity for the disease, nothing more.With that being said, most celiac specialists will advise you and your family to be regularly monitored in the event one or more of you eventually become symptomatic. This is because the HLA mutations are passed from parent to child, with some children inheriting two copies of the mutation (one from each parent) while others only inherit one.Those inheriting two are at greatest risk.If you have symptoms and all other test results are negative, a positive HLA test may justify a trial period during which you stop gluten to see if your symptoms improve.A Word From VerywellPeople who suspect they have celiac disease will often preemptively start a gluten-free diet to see if their condition improves. While this is perfectly fine and won’t cause any harm, starting preemptively may impede your ability to get an accurate diagnosis if you do decide to undergo testing.This is because a standardceliac blood panelwill look for specific antibodies to gluten in your bloodstream, while anendoscopic examwill search for visual evidence of damage in the small intestine and collect samples for biopsy. Without exposure to gluten, the tests are less able to identify characteristics of the disease and may end up returning a false negative result.When looking for an accurate diagnosis, you must be exposed to gluten. A genetic test can only suggest the likelihood of disease rather than offer a definitive diagnosis.
With the advent of advanced molecular genetic testing, doctors are now more than ever able to identify chromosomal disorders either directly or indirectly linked to a disease. One of these isceliac disease.
Laguna Design / Getty Images
Unlike some conditions in which a positive result is directly associated with the symptoms of a disease, a positive result for aceliac gene testsuggests the likelihood—rather than certainty—of disease. In most cases, the likelihood will be small.
Identifying the Celiac Genes
Two chromosomal mutations, known asHLA-DQ2andHLA-DQ8, are commonly associated with celiac disease.
By definition, HLA (human leukocyte antigen) is a cellular protein that triggers an immune response. With celiac disease, aberrations in the HLA coding can cause the immune system to go haywire in the presence of gluten and attack cells of thesmall intestine.
Despite the fact that HLA-DQ2 and HLA-DQ8 are both linked to this effect, having the mutation doesn’t necessarily mean that you’ll get the disease. In fact, about 40% of the Eurpid, or caucasian, population has one of these mutations. Of those who do carry the mutation, only around 1% will develop the disease in their adult years.
All told, around 1 of every 133 people in the U.S. will get celiac disease in one form or another with symptoms ranging from serious tovirtually non-existent.
What Happens If You Test Positive
Testing positive for either HLA-DQ2 or HLA-DQ8 does not mean you have to change your eating habits unless you havesymptoms of the disease(includingdamage to the villithat line the small intestines). The test will simply tell you that you have a propensity for the disease, nothing more.
With that being said, most celiac specialists will advise you and your family to be regularly monitored in the event one or more of you eventually become symptomatic. This is because the HLA mutations are passed from parent to child, with some children inheriting two copies of the mutation (one from each parent) while others only inherit one.Those inheriting two are at greatest risk.
If you have symptoms and all other test results are negative, a positive HLA test may justify a trial period during which you stop gluten to see if your symptoms improve.
A Word From Verywell
People who suspect they have celiac disease will often preemptively start a gluten-free diet to see if their condition improves. While this is perfectly fine and won’t cause any harm, starting preemptively may impede your ability to get an accurate diagnosis if you do decide to undergo testing.
This is because a standardceliac blood panelwill look for specific antibodies to gluten in your bloodstream, while anendoscopic examwill search for visual evidence of damage in the small intestine and collect samples for biopsy. Without exposure to gluten, the tests are less able to identify characteristics of the disease and may end up returning a false negative result.
When looking for an accurate diagnosis, you must be exposed to gluten. A genetic test can only suggest the likelihood of disease rather than offer a definitive diagnosis.
5 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Siddiqui K, Uqaili AA, Rafiq M, Bhutto MA.Human leukocyte antigen (HLA)-DQ2 and -DQ8 haplotypes in celiac, celiac with type 1 diabetic, and celiac suspected pediatric cases.Medicine (Baltimore). 2021;100(11):e24954. doi:10.1097/MD.0000000000024954National Institutes of Health Genetics Home Reference.Celiac disease.Beyond Celiac.Celiac Disease: Fast Facts.Cruz-Tapias P, Castiblanco J, Anaya JM.Major histocompatibility complex: Antigen processing and presentation. In: Anaya JM, Shoenfeld Y, Rojas-Villarraga A, et al., editors.Autoimmunity: From Bench to Bedside [Internet]. Bogota (Colombia): El Rosario University Press; 2013.National Institute of Diabetes and Digestive and Kidney Diseases.Diagnosis of celiac disease.
5 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Siddiqui K, Uqaili AA, Rafiq M, Bhutto MA.Human leukocyte antigen (HLA)-DQ2 and -DQ8 haplotypes in celiac, celiac with type 1 diabetic, and celiac suspected pediatric cases.Medicine (Baltimore). 2021;100(11):e24954. doi:10.1097/MD.0000000000024954National Institutes of Health Genetics Home Reference.Celiac disease.Beyond Celiac.Celiac Disease: Fast Facts.Cruz-Tapias P, Castiblanco J, Anaya JM.Major histocompatibility complex: Antigen processing and presentation. In: Anaya JM, Shoenfeld Y, Rojas-Villarraga A, et al., editors.Autoimmunity: From Bench to Bedside [Internet]. Bogota (Colombia): El Rosario University Press; 2013.National Institute of Diabetes and Digestive and Kidney Diseases.Diagnosis of celiac disease.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Siddiqui K, Uqaili AA, Rafiq M, Bhutto MA.Human leukocyte antigen (HLA)-DQ2 and -DQ8 haplotypes in celiac, celiac with type 1 diabetic, and celiac suspected pediatric cases.Medicine (Baltimore). 2021;100(11):e24954. doi:10.1097/MD.0000000000024954National Institutes of Health Genetics Home Reference.Celiac disease.Beyond Celiac.Celiac Disease: Fast Facts.Cruz-Tapias P, Castiblanco J, Anaya JM.Major histocompatibility complex: Antigen processing and presentation. In: Anaya JM, Shoenfeld Y, Rojas-Villarraga A, et al., editors.Autoimmunity: From Bench to Bedside [Internet]. Bogota (Colombia): El Rosario University Press; 2013.National Institute of Diabetes and Digestive and Kidney Diseases.Diagnosis of celiac disease.
Siddiqui K, Uqaili AA, Rafiq M, Bhutto MA.Human leukocyte antigen (HLA)-DQ2 and -DQ8 haplotypes in celiac, celiac with type 1 diabetic, and celiac suspected pediatric cases.Medicine (Baltimore). 2021;100(11):e24954. doi:10.1097/MD.0000000000024954
National Institutes of Health Genetics Home Reference.Celiac disease.
Beyond Celiac.Celiac Disease: Fast Facts.
Cruz-Tapias P, Castiblanco J, Anaya JM.Major histocompatibility complex: Antigen processing and presentation. In: Anaya JM, Shoenfeld Y, Rojas-Villarraga A, et al., editors.Autoimmunity: From Bench to Bedside [Internet]. Bogota (Colombia): El Rosario University Press; 2013.
National Institute of Diabetes and Digestive and Kidney Diseases.Diagnosis of celiac disease.
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