Key Gene Involved in Lupus Identified

Researchers have identified a key gene involved in the disease Lupus.

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.

The study, led by Professor Tim Vyse a Wellcome Trust Senior Fellow from Imperial College, has identified a new genetic variant, OX40L, which increases the risk of developing Lupus.

OX40L is a gene that is important in several different types of cells in the immune system.

The variant increases the risk of developing the disease by 50 percent 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," Nature quoted Vyse, as saying.

"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,” he said.

The study 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 immune system.

The researchers are currently studying exactly how this increases the risk of SLE.

"As well as causing problems with diagnosis, Lupus's many symptoms make it difficult to work out which are key to the disease," Vyse said.

"Identifying a specific gene will enable us to see at a molecular level what is behind Lupus and develop treatments targeted at inhibiting or blocking the action of those genes,” he added.

Vyse also stressed the importance of more DNA samples from volunteers and calls for more patients to provide samples.

The OX40L gene was identified by studying approximately 1.400 people with Lupus, and other members of their families.

"Without DNA samples from people with Lupus, we would be unable to study the disease," Vyse said.

"Despite the disease being relatively common, DNA samples are in short supply. I would encourage patients to discuss with their GP or consultant about providing a blood sample to help further our understanding,” he added.

The study is published in the journal Nature Genetics.

Source-ANI
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