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Báo cáo y học: The genetics of chronic obstructive pulmonary disease

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài:The genetics of chronic obstructive pulmonary disease. | Available online http respiratory-research.eom content 2 1 020 Review The genetics of chronic obstructive pulmonary disease David A Lomas and Edwin K Silverman1 Department of Medicine University of Cambridge Cambridge UK Brigham and Women s Hospital Boston Massachusetts USA Correspondence Prof David Lomas Department of Medicine University of Cambridge Wellcome Trust Centre for Molecular Mechanisms in Disease Cambridge Institute for Medical Research Hills Road Cambridge CB2 2XY UK. Tel 44 1223 762818 fax 44 1223 336827 e-mail dal16@cam.ac.uk Received 21 November 2000 Accepted 11 December 2000 Published 11 January 2001 Respir Res 2001 2 20-26 2001 BioMed Central Ltd Print ISSN 1465-9921 Online ISSN 1465-993X Abstract Chronic obstructive pulmonary disease COPD is a significant cause of global morbidity and mortality. Previous studies have shown that COPD aggregates in families suggesting a genetic predisposition to airflow obstruction. Many candidate genes have been assessed but the data are often conflicting. We review the genetic factors that predispose smokers to COPD and highlight the future role of genomic scans in identifying novel susceptibility genes. Keywords association studies chronic obstructive pulmonary disease emphysema genetics lungs Introduction Chronic obstructive pulmonary disease COPD is defined as airflow obstruction that does not change appreciably over a period of several months 1 . It is a syndrome composed of chronic bronchitis small airways disease bronchiolitis and emphysema which vary in proportion between affected individuals. COPD is a major cause of global morbidity and mortality and affected 44 million people in 1990. Indeed 14 million people suffer from COPD in the United States alone where this condition resulted in nearly 92 thousand deaths in 1995 2 . It is estimated that 2.88 million people in the world will die from COPD this year and the numbers are growing 3 . COPD is becoming more prevalent amongst Western women and is set to .