Maltese researchers find new celiac disease gene

Maltese researchers have identified a new gene that contributes to celiac disease, a gluten intolerance that affects an estimated 600 Maltese.

This was the first time that a variant of a gene called CD59 has been associated with celiac disease following three years of research at a University of Malta lab.

The discovery was made after analysing the DNA of 17 relatives, six of whom suffered from gluten intolerance.

The laborious €23,000 research - funded by the Malta Council for Science and Technology - included looking at the DNA of each family member and the different genes, genetics specialist Christian Scerri, who headed the research, explained.

"If you have a grandmother, a mother and a son who all suffer from a particular disease, we will look for the part of DNA that is common in all three," he said. Once this part of the DNA has been identified, the researchers start looking at all the different genes in that section of the DNA.

The researchers had the backing of previous international studies that had already determined that only people with a certain type of the molecule human leukocyte antigen, called HLA-DQ2/DQ8, were pre-disposed to celiac disease. Although on its own this molecule - found in about 30 per cent of the global population - does not cause gluten intolerance, when combined with a number of genes it leads to celiac disease.

"We found that all those patients who suffered from celiac disease had both HLA-DQ2/DQ8 and a variant of CD59," Dr Scerri said.

The study also showed that those people who had HLA-DQ2/DQ8 or CD59 alone did not suffer from celiac disease, giving a clear indication that the combination of the two led to gluten intolerance.

The gene variant was also rare in Malta and was not found among another 99 families who have members with celiac disease.

"This seems to be the only family in Malta which has this gene," Dr Scerri said, referring to the 17-strong family that was tested.

But although the gene is very rare, the research is important because it should lead to further study aimed at discovering how particular genes lead to certain conditions.

Dr Scerri said more researchers were needed to continue with the work he hoped the necessary staff would have been employed by the end of next year when a €4.5 million restructuring at the University's lab of molecular genetics would be finalised.