Wellcome Trust researchers have identified a key gene involved in the disease Lupus, which affects around 50,000 people in the UK, mostly women. The lead researcher behind the study has called for more patients to volunteer DNA samples to enable them to further study the underlying causes of the disease.
Lupus or Systemic Lupus Erythematosus (SLE) is an autoimmune disease which frequently causes skin rash, joint pains and malaise, but can also lead to inflammation of the kidneys and other internal organs. The risk of death in SLE is increased fivefold over that of the general population. However, because the symptoms are often non-specific, diagnosing the condition can be difficult. There is currently no cure for the disease, which can be triggered by viral infections, sunlight, trauma or stress, as well as puberty and childbirth.
In research published online today in the journal Nature Genetics, Professor Tim Vyse from Imperial College London, and colleagues in the US and Canada, have identified a new genetic variant, OX40L, which increases the risk of developing Lupus. The variant, which is carried by one in six people in the UK, increases the risk of developing the disease by 50% per copy.
"Lupus can be a very serious condition, but because its symptoms are often similar to those of other illnesses, it can be difficult and take time to diagnose," says Professor Vyse, a Wellcome Trust Senior Fellow from Imperial College. "Although it appears to have a number of environmental triggers, we are now beginning to get a clearer picture of the role that genetics also plays in the disease."
OX40L is a gene that is important in several different types of cells in the immune system. The work, carried out by members of Prof Vyses laboratory, shows that the genetic variants in the OX40L gene that amplify the risk of lupus do so by increasing the amount of OX40L present on the surface of lymphocytes, which are key components of the
|Contact: Craig Brierley|