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Báo cáo y học: "Bench-to-bedside review: Association of genetic variation with sepsis"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Bench-to-bedside review: Association of genetic variation with sepsis. | Available online http ccforum.eom content 13 2 210 Review Bench-to-bedside review Association of genetic variation with sepsis Ainsley M Sutherland1 and Keith R Walley2 1 Faculty of Medicine University of Toronto Toronto Ontario Canada 2Critical Care Research Laboratories Heart Lung Institute University of British Columbia Burrard Street Vancouver British Columbia Canada V6Z 1Y6 Corresponding author Keith R Walley kwalley@mrl.ubc.ca Published 29 April 2009 Critical Care 2009 13 210 doi 10.1186 cc7702 This article is online at http ccforum.com content 13 2 210 2009 BioMed Central Ltd Abstract Susceptibility and response to infectious disease is in part heritable. Initial attempts to identify the causal genetic polymorphisms have not been entirely successful because of the complexity of the genetic epigenetic and environmental factors that influence susceptibility and response to infectious disease and because of flaws in study design. Potential associations between clinical outcome from sepsis and many inflammatory cytokine gene polymorphisms innate immunity pathway gene polymorphisms and coagulation cascade polymorphisms have been observed. Confirmation in large well conducted multicenter studies is required to confirm current findings and to make them clinically applicable. Unbiased investigation of all genes in the human genome is an emerging approach. New economical high-throughput technologies may make this possible. It is now feasible to genotype thousands of tag single nucleotide polymorphisms across the genome in thousands of patients thus addressing the issues of small sample size and bias in selecting candidate polymorphisms and genes for genetic association studies. By performing genomewide association studies genome-wide scans of nonsynonymous single nucleotide polymorphisms and testing for differential allelic expression and copy number polymorphisms we may yet be able to tease out the complex influence of genetic variation on susceptibility and .