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Respiratory Research

, 3:7

First Online: 19 February 2002Received: 30 August 2001Revised: 19 January 2002Accepted: 22 January 2002


The study of genetic polymorphisms has touched every aspect of pulmonary and critical care medicine. We review recent progress made using genetic polymorphisms to define pathophysiology, to identify persons at risk for pulmonary disease and to predict treatment response. Several pitfalls are commonly encountered in studying genetic polymorphisms, and this article points out criteria that should be applied to design high-quality genetic polymorphism studies.

genetic predisposition to disease genetics human polymorphism genetics pulmonary AbbreviationsCOPDchronic obstructive pulmonary disease

HLAhuman leukocyte antigen

HRRhaplotype relative risk


IPFidiopathic pulmonary fibrosis

LDlinkage disequilibrium

LHSLung Health Study

mEHmicrosomal epoxide hydrolase

TDTtransmission disequilibrium test

TNFtumor necrosis factor.

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Author: Michael C Iannuzzi - Mary Maliarik - Benjamin Rybicki


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