Genetic Test Predictive of Severity of Cystic Fibrosis Pulmonary Disease
Inventors: Craig Gerard, Hara Levy, Gerald Pier, Scott Weiss, Christoph Lange
Invention Types: Diagnostic/Prognostic
Research Areas: Allergy/Respiratory/Pulmonary Disease
Keywords: SNPsFor More Information Contact: Khunkhun, Rajinder
Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and digestive system. A defective gene and its protein product, the CF conductance Transmembrane Regulator (CFTR), cause the body to produce unusually thick mucus that clogs the lungs and leads to life-threatening lung infections. Progressive pulmonary disease associated with chronic bacterial infection and airway inflammation is the major cause of morbidity and mortality in CF patients. There is a high level of heterogeneity in the pulmonary phenotype among CF patients. Dr. Levy and colleagues have identified polymorphisms in the interleukin-1 (IL-1) gene family that correlate with lung disease severity. The first round of screening was carried out in a cohort of 808 CF patients and further validation was performed in 130 trios.
These IL-1 polymorphisms could be the basis of a genetic test predictive of the severity of pulmonary disease in CF patients. There are about 30,000 children and adults in the U.S. living with CF; 70,000 worldwide. Advances in research and medical treatments have enhanced and extended life for patients with CF. In 2008, the median predicted age of survival was 37.4 years. Genetic test predictive of severity of CF pulmonary disease could be useful in patient management and proactive prevention of lung infection.
CF patients have increasing life expectancies, putting increased value on predictive tests of disease complications. Current CF diagnostic tests (the chloride content in sweat test or mutation test of the CFTR gene) only indicate the presence or absence of the condition. Results from Dr. Levy and colleagues suggest that polymorphisms in the IL-1 gene cluster influence lung disease severity in subjects with CF, and that genetic variation in the IL-1 gene family could result in a predictable respiratory disease phenotype in CF patients. These genetic markers may be useful in predicting CF disease progression and assessing a CF subject's response to therapy. Currently, there is no cure for CF. However, specialized medical care, aggressive drug treatments and therapies, along with proper nutrition, can lengthen and improve the quality of life for those with CF. The discovery by Dr. Levy and colleagues of potential markers for CF may allow one to customize the prevention or treatment in accordance with the subject's genetic profile.
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Key Publications: Pediatric Pulmonology 44: 580-593 (2009).