Genetic Marker for Asthma Identified at Oxford

Researchers at Oxford University’s Wellcome Trust Centre for Human Genetics have located a variant form of a polynucleotide sequence in the MHC region of chromosome 6p and identified its association with an increased secretion of TNF. Potential applications for this discovery include the diagnosis of asthma in patients, or a predisposition to asthma, and a patients’ suitability for treatment with anti-TNF therapy.

Asthma is a disease in which the airways become inflamed leading to blockage and narrowing, with resultant symptoms including wheezing, coughing, shortness of breath and tightening of the chest. Asthma sufferers can be of any race, age or sex, and over 17 million people in the United States alone suffer from the disease.

Most asthma is initiated by an IgE mediated allergy (atopy) to inhaled environmental allergens, including pollen, air pollutants and irritants. The susceptibility to asthma is strongly familial, and is due to both genetic and environmental factors. The identification of other genetic factors will lead to further understanding of susceptibility to asthma and an ability to develop a pharmacogenomic approach to treatment, new therapeutic approaches to treat sub-groups of patients who will benefit most from them. Tumour necrosis factor (TNF) is a potent pro-inflammatory cytokine that is found in increased concentrations in asthmatic airways and in lavage fluid from asthmatic lungs.

The Oxford research team has found that unusual genetic variants in or linked to the TNF? gene are predictive of asthma and inhaled or oral steroid usage in asthmatic individuals. This exciting new technology may be used as a diagnostic tool, useful to predict the clinical course of disease or the response to particular treatments, as well as helping to develop new therapeutic strategies.

Isis Innovation, Oxford University’s technology transfer company, has filed a patent application (US 09/058,165, 20010007741) and is actively seeking licensees to develop and commercialise this technology.