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Published ahead of print on June 30, 2005, doi:10.1165/rcmb.2005-0142OC

Am. J. Respir. Cell Mol. Biol., Volume 33, Number 4, October 2005, 402-405

A more recent version of this article appeared on October 1, 2005
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Submitted on April 18, 2005
Revised on June 30, 2005

Concordance of Genotypes in Pre- and Post-Lung Transplantation DNA Samples

Dawn L DeMeo1*, John J Reilly2, Leo C Ginns3, Jody S Sylvia4, and Edwin K Silverman1

1 Channing Laboratory, Brigham and Women's Hospital, Boston, MA, USA; Department of Medicine, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA, 2 Department of Medicine, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA, 3 Department of Medicine, Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA, USA, 4 Channing Laboratory, Brigham and Women's Hospital, Boston, MA, USA

* To whom correspondence should be addressed. E-mail: redld{at}channing.harvard.edu.

Genetic epidemiology studies of end-stage lung disease are potentially hindered by low numbers of participants due to early death of patients from the underlying disease, or due to exclusion from studies after patients have had lung transplants, due to concern about bias of genotype data due to chimerism. The number of participants enrolled in genetic studies of end-stage lung disease could be increased by including those individuals who have undergone lung transplant. We hypothesized that individuals who have had lung transplants can be included in genetic epidemiology studies that utilize single nucleotide polymorphism and short tandem repeat marker data, without confounding due to chimerism. Ten probands with severe, early-onset COPD were included in this analysis. Pre- and post-lung transplant DNA samples were utilized in the investigation of concordance of genotype results for 12 short tandem repeat markers and 23 single nucleotide polymorphisms. Concordance was observed for all genotypes pre- and post-lung transplant. We conclude that the risk of biasing genetic epidemiology studies due to donor lung-related DNA microchimerism is low, and that the inclusion of post-lung transplantation participants will allow for larger genetic epidemiology studies of individuals with end-stage lung disease.






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Proc. Am. Thorac. Soc. Am. J. Respir. Crit. Care Med.
Copyright © 2005 American Thoracic Society.