Causes and Risk Factors of Celiac Disease

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definition of celiac disease
Genes, your gluten consumption, and other factors may cause celiac disease. youngvet / Getty Images

It's not entirely clear what causes celiac disease. In fact, most researchers believe multiple factors are involved, including your genes, your environment, and the foods you eat. You need some or even all of these factors to be present in order to develop celiac disease.

Common Causes

Celiac disease is an autoimmune disease in which gluten in your diet triggers your white blood cells to attack the tiny, finger-like projections called villi that line your small intestine and normally help you digest food. The lining is eroded until it's worn smooth. Without villi, you can't absorb vitamins, minerals, and other nutrients from food.

Your genes play a very strong role—if you don't have one of the two specific genes that have been linked to celiac disease, your odds of developing the condition are very low (although they are not zero; medical research has found people who have celiac but not those genes). However, because 30 percent of the population has one of the genes, and only 3 percent of the population with one or both of these genes develop celiac disease, genetics isn't the only factor.

To develop celiac disease, you must be eating gluten. When you have celiac disease, gluten spurs your immune system to attack your small intestine. Gluten is common in the Western-style diet, so it would be unusual to avoid it when not following a strict gluten-free diet.

Finally, for you to develop celiac disease, certain factors in your environment must help to cause it. It's these factors that aren't clear; some people can consume gluten every day for decades without a problem and then develop severe celiac disease symptoms very suddenly, while some young children exhibit celiac symptoms as soon as gluten-containing grains are introduced into their diets. Many women begin to experience celiac symptoms following pregnancy and birth, and other people find their symptoms begin following a seemingly unrelated illness, or even following a stressful time in their life. There is also research into whether a virus might trigger the condition.

Besides having first-degree family members with celiac disease, risk factors include having lymphocytic colitis, Down syndrome, Turner syndrome, type 1 diabetes mellitus, and autoimmune (Hashimoto) thyroiditis, and Addison's disease.

Genetics

The two main genes for celiac disease are HLA-DQ2 and HLA-DQ8. About 96 percent of those diagnosed with celiac disease (by biopsy) have one or both of those genes. Certain subsets of the HLA-DQ2 gene can increase or decrease your risk. It's likely, too, that there are other genes involved that haven't yet been identified.

Genes are inherited, and as a result celiac disease is seen to run in families. If you have a first-degree relative (parent, sibling, or child) with celiac disease you have a 10 percent to 20 percent chance of having celiac disease.

HLA-DQ2 is common among people with European heritage, seen in up to 30 percent of that population. HLA-DQ8 is most common in people from Central and South America but also appears in about 10 percent of the overall population. There's some evidence that carrying two copies of one of the genes (either DQ2 or DQ8) may increase your risk. You would have two copies if you inherited one copy from each parent.

Genetic testing for the genes associated with celiac disease is done by collecting cells from you mouth with a swab or by spitting into a vial. This can be done by your doctor, by specialized laboratories, or even by commercial genetic profile companies.

Lifestyle Risk Factors

Eating gluten is a necessary factor in developing celiac disease. Without gluten, the reaction that injures the villi doesn't happen. But you would have to grow up in an extremely cautious gluten-free household to have avoided gluten your entire life.

Gluten is found in wheat and some other grains. There is conflicting research as to whether the hybridized wheat of today has more gluten than wheat from a century ago. But wheat, gluten, and other gluten-containing grains are found in many processed foods, which may result in people having more exposure to gluten.

One theory that's not correct is blaming the rise in celiac disease and non-celiac gluten sensitivity on genetically modified wheat. Since genetically-modified wheat isn't on the market anywhere, it can't be causing an increase.

There is ongoing research into whether feeding patterns in the first year of life make a difference in developing celiac disease. These studies have not found any effect associated with whether or not a child was breastfed and when gluten was first introduced to the diet. There is weak evidence that having a high amount of gluten at the time of weaning might increase the risk of celiac disease in children who have a high familial risk.

A Word From Verywell

Celiac disease is caused by having specific genes, eating gluten, and possibly by some sort of trigger. However, medical science still doesn't know much about any of these potential triggers, even though those seem to be the key to why some people with the "right" genes develop celiac disease while others do not. In fact, researchers have only begun to explore various possibilities.

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Article Sources

  1. Green PH, Cellier C. Celiac disease. N Engl J Med. 2007;357(17):1731-43. doi:10.1056/NEJMra071600

  2. U.S. Department of Health & Human Services. Celiac Disease. Updated December 6, 2017.

  3. Karell K, Louka AS, Moodie SJ, et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum Immunol. 2003;64(4):469-77. doi:10.1016/S0198-8859(03)00027-2

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