Scientists identify gene responsible for severe skin condition

Liverpool, UK - 23 March 2011: Scientists at the University of Liverpool and the Royal College of Surgeons in Ireland have identified a gene that could indicate if epilepsy patients starting drug treatment are likely to experience side-effects resulting in blistering of the skin. The drug, called carbamazepine, is commonly used to treat patients with epilepsy and other diseases such as depression and trigeminal neuralgia. Although successful in treating the majority of patients, carbamazepine can cause side-effects that range from a mild skin irritation to severe blistering of the whole body. The team, in collaboration with the Wellcome Trust Sanger Institute, screened more than a million variants in DNA across the human genome to understand why some patients are more prone to the drug's side-effects than others. Research in Taiwan has already identified a gene that predisposes Asian patients to the skin condition, but Liverpool scientists discovered that this gene could not be used to predict the reaction in Caucasian people. Researchers have now identified a gene, called HLA-A*3101, in Caucasian patients that increases the risk of developing a reaction to the drug from 5% to 26%. Researchers are now working with clinicians and drug regulators to investigate how these new findings can translate into clinical practice.