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Báo cáo y học: "Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma"

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:"Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma. | Available online http respiratory-research.eom content 2 2 102 Review Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma Lyle J Palmer and William OCM Cookson Channing Laboratory Brigham and Women s Hospital and Harvard Medical School Boston Massachusetts USA Case Western Reserve University Cleveland Ohio USA The Wellcome Trust Centre for Human Genetics Oxford UK Correspondence Lyle Palmer The Channing Laboratory Brigham and Women s Hospital and Harvard Medical School 181 Longwood Avenue Boston MA 02115 USA. Tel 1 617 525 0872 fax 1 617 525 0958 e-mail lyle.palmer@channing.harvard.edu Received 9 January 2001 Revisions requested 24 January 2001 Revisions received 1 February 2001 Accepted 9 February 2001 Published 8 March 2001 Respir Res 2001 2 102-112 2001 BioMed Central Ltd Print ISSN 1465-9921 Online ISSN 1465-993X Abstract Asthma is the most common chronic childhood disease in the developed nations and is a complex disease that has high social and economic costs. Studies of the genetic etiology of asthma offer a way of improving our understanding of its pathogenesis with the goal of improving preventive strategies diagnostic tools and therapies. Considerable effort and expense have been expended in attempts to detect specific polymorphisms in genetic loci contributing to asthma susceptibility. Concomitantly the technology for detecting single nucleotide polymorphisms SNPs has undergone rapid development extensive catalogues of SNPs across the genome have been constructed and SNPs have been increasingly used as a method of investigating the genetic etiology of complex human diseases. This paper reviews both current and potential future contributions of SNPs to our understanding of asthma pathophysiology. Keywords association studies asthma genetics review SNP Introduction Asthma is the most serious of the atopic diseases. It is the most common chronic childhood disease in developed nations 1 and carries a very .