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Understanding the Genetics of Gluten Sensitivity

By: Dr. Scot Lewey

All of us have patterns of proteins on the surface of our white blood cells. The proteins are known as human leukocyte antigens (HLA), one of which is DQ. Celiac Disease (CD) and non-Celiac gluten sensitivity (NCGS), and several autoimmune conditions occur more frequently with certain HLA DQ types. DQ gene testing is performed by analyzing cells from blood or oral cheek cells. HLA types have a naming system that can be confusing even to scientist and physicians but here is my explanation of the testing, the results, and what they may mean to you and your family.

Each of us has two copies of HLA DQ therefore we are DQx/DQx where x is a number between 1 & 9. We get one DQ type from each of our parents and give one to each of our children. There are four major types and 5 subtypes: HLA DQ1, DQ2, DQ3, and DQ4; DQ1 has two subtypes DQ5 and DQ6 while DQ3 has three subtypes DQ7, DQ8, and DQ9.

DQ1, & DQ1 subtypes DQ5, DQ6 all pre-disposing to gluten sensitivity DQ2, the most common major gene type present in Celiac Disease DQ3, & DQ3 subtypes DQ7, DQ8, DQ9; all pre-disposing to gluten sensitivity, especially DQ7 DQ4, not pre-disposing to gluten sensitivity, and not generally found in Caucasians but Asian and Africans

DQ2 & DQ8 are the two major types present in 90-99% of people who have CD. 35-40% of people in the U.S. have DQ2 and/or DQ8 types but only 1% of those will have abnormal blood tests and small intestine biopsies to confirm CD. Though traditionally it has been reported if you are DQ2 and DQ8 negative you are unlikely to have Celiac or be at risk of developing CD, this may not be valid, because we now know that there are people who are negative for those two gene types that have CD or the skin equivalent of CD, known as dermatitis herpetiformis (DH). More importantly recent studies indicate 60-80% of people who have any pattern besides DQ4/DQ4 have stool antibodies indicating sensitivity to gluten and they respond favorably to a gluten free diet.

Recent information indicates that people who are doubly positive for DQ7 are also at high risk for CD and anyone who has any DQ type except DQ4/DQ4 is at risk for NCGS and CD. The highest risk is those who have DQ2/DQ2, DQ2/DQ8, DQ8/DQ8 and DQ7/DQ7 and then anyone with one DQ2 or DQ8.

Why some people get Celiac Disease or become sensitive gluten is not well understood but certain factors are believed to include onset of puberty, pregnancy, stress, trauma or injury, surgery, viral or bacterial infections including those of the gut, medication induced gut injury or toxicity e.g. non-steroidal anti-inflammatory medications such as aspirin, ibuprofen, etc., immune suppression or autoimmune diseases. These may unmask gluten sensitivity in someone who has a genetic risk. The severity of the sensitivity is related to the DQ type, pre-existing intestinal injury, degree of exposure to gluten (how frequent and large a gluten load an individual is exposed to), and immune status. Once initiated, gluten sensitivity tends to be life long. True CD requires lifelong complete gluten avoidance to prevent serious complications, cancers, and early death.

DQ testing can be done by blood or by a swab of the inside of the mouth. Labs that are contracted with your insurance carriers and Medicare typically do not provide the full typing but only report the presence or absence of any DQ2 or DQ8. Exceptions are Quest Labs and the Laboratory at Bonfils, Denver. Bonfils also can perform the DQ testing from a mouth swab through Enterolab (www.enterolab.com) for a fee of $149 but you will have to pay for the test personally by credit card or money order. Enterolab also provides stool testing for presence of gluten antibodies for a fee of $99 or combined genetic typing, stool testing for gluten and cow’s milk protein antibodies, and a malabsorption stool for $349.

Scot M. Lewey, D.O., FACP, FAAP “the food doc” www.thefooddoc.com

Dr. Scot Lewey is a physician who is specialty trained and board certified in the field of gastroenterology (diseases of the digestive system) who practices his specialty in Colorado.

Article Source: http://www.new.citynewslive.com

He is the physician advisor to the local Celiac Sprue support group and is a published author and researcher who is developing a web based educational program for people suffering from food intolerances, www.thefooddoc.com

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