PEOPLE WITH cystic fibrosis are five times more likely to develop liver disease if they carry an additional genetic risk factor, according to recent research that could eventually lead to patient screening for the risk.
Cystic fibrosis affects more than 1,100 people in Ireland, and an estimated 5 per cent go on to develop liver disease, according to Dr Marion Rowland, a researcher at the Children's Research Centre in Crumlin and an author on the major international study published recently in the Journal of the American Medical Association.
The research, which involved Irish patients and received funding from the Health Research Board, compared several genes between people who had cystic fibrosis liver disease and those who didn’t.
That strategy pinpointed a “modifier” gene variant, which is separate from the cystic fibrosis gene itself.
“People with CF who have one copy of this gene are at five times the risk compared with people with CF who don’t have the gene,” explained Dr Rowland, who is a lecturer in clinical medicine at University College Dublin’s school of medicine and medical science.
The discovery could pave the way for identifying which patients are more likely to go on and develop liver problems, she noted, but she stressed that the work was at an early stage.
“Now we have to go back and figure out how this gene causes liver disease,” she said.
“But it would be nice if you could predict very early on who is at risk of getting liver disease so that you could target these children for nutrition, because we know from previous studies that their fat stores are much reduced.”
Fellow study author Prof Billy Bourke from Our Lady’s Hospital for Sick Children in Crumlin agreed further work was needed.
“But this is a really important discovery which provides clear direction for where we need to focus our next research effort. Ultimately we want to provide early diagnosis and save lives,” he said.
