Study links immune system genetic variants to development of leukaemia

A new study has found that people inheriting genetic variants affecting the function of their immune system are at risk of developing chronic lymphocytic leukaemia (CLL).

Scientists from the Institute of Cancer Research linked the risk of developing CLL to the inheritance of nine regions of DNA, five of which help white blood cells fight disease.

CLL is a slow-growing cancer of the white blood cells and affects around 3,500 people every year.

The new understanding may lead researchers to new targeted drugs for the disease, or help them choose existing immunotherapy treatments.

ICR molecular and population genetics professor and study co-leader Richard Houlston said: "We knew people were more likely to develop chronic lymphocytic leukaemia if someone in their family had suffered from the disease, but our new research takes a big step towards explaining the underlying genetics.

"CLL is essentially a disease of the immune system, and it’s fascinating that so many of the new genetic variants we have uncovered seem to directly affect the behaviour of white blood cells and their ability to fight disease."

During the study, the scientists associated each of the new variants affecting the immune system with an increased risk of up to 17% of developing CLL.

Two fell within regions of DNA that have been previously linked with autoimmune disorders, multiple sclerosis and lupus.

As part of the research funded by the charity Bloodwise, 41 DNA changes were found to influence the risk of developing CLL.

The study gathered data from six previous studies and two new studies involving 6,200 people with the disease.

One of the new variants resides in the gene BANK1, another was found in the gene ZBTB7A, while a third was found in a region of chromosome 22.

Bloodwise research director Dr Alasdair Rankin said: "At the moment, CLL is incurable and we desperately need to find new ways to tackle this blood cancer.

"We are beginning to gain a detailed picture of what drives this disease, and we hope this eventually leads to more accurate diagnosis and more informed personalised treatment for people affected by CLL."