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Gene in Focus: Part 32 - HLA DQ2 & DQ8

Posted 460 Days Ago in: Training, Genetics


It is now known that there are two genes, called HLA DQ2 and HLA DQ8, which are found in about 99% of people with coeliac disease. However, these genes are also present in about 35% of people with coeliac disease. So whilst the majority of people with coeliac disease have the HLA DQ2/DQ8 gene variants, the majority of people with these genes don’t have coeliac disease. This is because coeliac disease only affects about 1% of people. So, if we have 100 people, about 35 of these people will have the HLA DQ2 or DQ8 genes, but only one of them will have coeliac disease.

Coeliac disease is an autoimmune condition that affects the small intestine. If you have coeliac disease, and you consume foods that contain gluten, you will likely suffer from symptoms include diarrhoea, abdominal pain, weight loss and malabsorption. This is because the presence of gluten causes a reaction in the microvilli, which are finger-like structures found in the small intestine. Their purpose is to increase the surface area of the intestines, allowing for greater absorption of vitamins and minerals. However, in people with coeliac disease who consume gluten, these microvilli become blunted and start to disappear – a process known as villous atrophy. This makes it much harder for the body to absorb nutrients, which in turn can causes weight loss and vitamin and mineral deficiencies.

The DNAFit test, then, can’t tell you whether you do or don’t have coeliac disease. The only way to know for sure if you have coeliac disease is through a small bowel biopsy, which would be done by a doctor. Instead, DNAFit can tell you your likelihood of developing coeliac disease. As I mentioned earlier, everyone’s risk of developing coeliac disease is 1/100 – and this is true until we test your genes. If we see that you haven’t got the HLA DQ2/DQ8 genes, then your risk of developing coeliac disease is very low; about 1 in 2000. If you have got the HLA DQ2/DQ8 genes, then your risk is elevated to 1 in 35. Still pretty good odds in your favour that you won’t have coeliac disease, but worth being aware.


So, how can you use this information? It’s worth reiterating that the DNAFit test can’t tell you whether you have or haven’t got coeliac disease, or whether you can or can’t get it. It can just tell you the likelihood of developing it. Even if you have a low genetic risk of 1 in 2000, that still means that you can develop coeliac disease. Conversely, having a higher risk of developing coeliac disease does not mean that you will. It’s worth pointing out that the only known management for coeliac disease is a gluten free diet. However, if you have the HLA DQ2 or HLA DQ8 genes, there is no reason for you to start eating this way. Instead, you should monitor how you respond to gluten containing foods. If you start to develop diarrhoea or abdominal cramps, or feel run down or anaemic, and have a high risk of coeliac disease as per the DNAFit test, it might be worth speaking with your doctor in order to have a proper medical examination.


Gene in focus Coeliac disease Gluten Nutrition Diet


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