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Báo cáo khoa học: "Bench-to-bedside review: Genetics and proteomics: deciphering gene association studies in critical illness"

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: Genetics and proteomics: deciphering gene association studies in critical illness. | Available online http ccforum.eom content 10 4 227 Review Bench-to-bedside review Genetics and proteomics deciphering gene association studies in critical illness Sachin Yende1 Candace M Kammerer2 and Derek C Angus1 1The CRISMA Clinical Research Investigation and Systems Modeling of Acute Illness Laboratory Department of Critical Care Medicine University of Pittsburgh Pittsburgh PA USA 2Department of Human Genetics University of Pittsburgh PA USA Corresponding author Sachin Yende yendes@upmc.edu Published 24 August 2006 This article is online at http ccforum.com content 10 4 227 2006 BioMed Central Ltd Critical Care 2006 10 227 doi 10.1186 cc5015 Abstract There is considerable interest in understanding genetic determinants of critical illness to improve current risk stratification models provide individualized therapies and improve our current understanding of disease mechanisms. This review provides a broad overview of genetic nomenclature different study designs and problems unique to each of these study designs in critical illnesses. Well designed genetic studies with careful attention to these issues during the planning phase use of rigorous statistical methods during analysis and replication of these results in different cohorts will lead to more robust results and improved understanding of genetics of critical care. The completion of the Human Genome draft in 2000 has been accompanied by an explosion of studies examining genetic determinants of disease 1 2 . In critical care current prediction models based on socio-demographic and clinical risk factors fail to explain fully why a particular patient either develops or succumbs to disease. Consequently physicians have tried to understand if genetic variation affects susceptibility and outcome of critical illnesses. Genetics may also provide insights into biological mechanisms and allow more precise use of interventions. Using targeted therapy based on an individual s genetic makeup rather than using it on all .