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Insights from groundbreaking research in the journal Gastroenterology

Almost all people who have coeliac disease carry a gene for the disease that can be passed on to their children. However, carrying a gene does not mean your child will definitely have the disease. It simply means your child is at risk of developing the condition.

Now, new research published in the journal, Gastroenterology, suggests that genetic testing may be more useful than simply assessing if a person carries the genes associated with coeliac disease.

The researchers found that the level of risk for children in families with coeliac disease depends on a number of factors including gender, age, type of coeliac-disease-related genes and the number of relatives with coeliac disease. When combined, these factors provide a predictive score that estimates cumulative risk over years and can be used to determine how often an at-risk child who does not have symptoms should be tested for coeliac disease.

The study found that children with first degree relatives often develop coeliac disease early in life and that the risk for coeliac disease was significantly higher in girls who have two copies of HLA DQ2, one of the genes commonly associated with coeliac disease.

The results also showed that children with a first degree relative diagnosed with coeliac disease have a significantly greater risk of developing the condition during their first 10 years than has previously been thought.

“Until recently, the lifetime risk of coeliac disease for first degree relatives was considered to be 5 to 10 percent, yet our data show that at the age of 8 years this is as high as 17 percent,” the authors wrote, noting this finding emphasises the importance of “sound advice” for early screening.

The study is based on a 10-year follow-up of data from previous research involving nearly 950 children who had the genes for coeliac disease and a first degree relative who had been diagnosed. Of these, 135 children developed coeliac disease. In around 60 percent of cases, girls were affected more than the boys.