My inbox was filled with notices today of the results of the discovery of a lupus gene by a UK based research group called the Wellcome Trust. This was reported in the Daily Mail and Science Daily, but I found the original announcement from the Wellcome Trust. According to their press release,

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 cent 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 Professor Vyse’s 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 immune system. They 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,” he says. “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.”

Professor Vyse’s group and other scientists have previously discovered two other genes implicated in lupus. IRF5 is a gene involved in regulating interferons, of which there appears to be an overabundance in lupus. Interferons are natural proteins produced by the cells of the immune system in response to challenges by pathogens such as viruses, bacteria and tumour cells. The role of the second of the previously-discovered genes, FCGR3B, in lupus is unclear.

At first I was pretty excited about this, but a Google search of the terms lupus gene yielded a Santa sized list of good research dating back decades that announced the discovery of a genetic connection in lupus. Some of this research was later revealed to be faulty; however, this study, while relatively small with only 1400 participants in a single region, could lead to new treatments and diagnostic tests.

Is this useful to you? I don’t want to just report things that you already know. Is a weekly lupus news feature helpful?