Research: Risky business

21 January 2008

Further details of the genetic basis of lupus.

Lupus (systemic lupus erythematosus) is an autoimmune disease thought to affect 50 000 people in the UK, mostly women. Many different symptoms can arise with this disease, making it tricky for researchers to pinpoint the mechanisms behind it, as well as causing delays in diagnosis.

Previous research has shown that susceptibility to lupus has a genetic component. Now, an international research team, including Wellcome Trust Senior Research Fellow Professor Tim Vyse from Imperial College London, has identified a gene linked to the risk of getting the disease. They have also confirmed the importance of interactions between two types of immune cell - B cells and antigen presenting cells - in lupus.

The team identified a haplotype - a cluster of variations in the DNA sequence that are inherited together - at the start of a gene called OX40L. One in six people in the UK is thought to carry this genetic variant, which increases the chance of developing lupus by 50 per cent per copy.

The researchers showed that the genetic variant was associated with increased expression of OX40L protein on the surface of B cells. A further study is underway to explore how exactly this plays a role in predisposing someone to developing lupus.

References

Graham DS et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2008;40(1):83-9.