Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma

Jason D. Christie, Mark M. Wurfel, Rui Feng, Grant E. O'Keefe, Jonathan Bradfield, Lorraine B. Ware, David C. Christiani, Carolyn S. Calfee, Mitchell J. Cohen, Michael Matthay, Nuala J. Meyer, Cecilia Kim, Mingyao Li, Joshua Akey, Kathleen C. Barnes, Jonathan Sevransky, Paul N. Lanken, Addison K. May, Richard Aplenc, James P. MaloneyHakon Hakonarson

Research output: Contribution to journalArticle

Abstract

Acute Lung Injury (ALI) is a syndrome with high associated mortality characterized by severe hypoxemia and pulmonary infiltrates in patients with critical illness. We conducted the first investigation to use the genome wide association (GWA) approach to identify putative risk variants for ALI. Genome wide genotyping was performed using the Illumina Human Quad 610 BeadChip. We performed a two-stage GWA study followed by a third stage of functional characterization. In the discovery phase (Phase 1), we compared 600 European American trauma-associated ALI cases with 2266 European American population-based controls. We carried forward the top 1% of single nucleotide polymorphisms (SNPs) at p

Original languageEnglish (US)
Article numbere28268
JournalPLoS One
Volume7
Issue number1
DOIs
StatePublished - Jan 25 2012

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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    Christie, J. D., Wurfel, M. M., Feng, R., O'Keefe, G. E., Bradfield, J., Ware, L. B., Christiani, D. C., Calfee, C. S., Cohen, M. J., Matthay, M., Meyer, N. J., Kim, C., Li, M., Akey, J., Barnes, K. C., Sevransky, J., Lanken, P. N., May, A. K., Aplenc, R., ... Hakonarson, H. (2012). Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma. PLoS One, 7(1), [e28268]. https://doi.org/10.1371/journal.pone.0028268