Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes  Wanda K.

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Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes  Wanda K. O’Neal, Paul Gallins, Rhonda G. Pace, Hong Dang, Whitney E. Wolf, Lisa C. Jones, XueLiang Guo, Yi-Hui Zhou, Vered Madar, Jinyan Huang, Liming Liang, Miriam F. Moffatt, Garry R. Cutting, Mitchell L. Drumm, Johanna M. Rommens, Lisa J. Strug, Wei Sun, Jaclyn R. Stonebraker, Fred A. Wright, Michael R. Knowles  The American Journal of Human Genetics  Volume 96, Issue 2, Pages 318-328 (February 2015) DOI: 10.1016/j.ajhg.2014.12.022 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 HLA Region Consistently Associated with Consortium Lung Phenotype and Age of Onset of Persistent P. aeruginosa Phenotype across Multiple Analyses, but not MI Phenotype Differential gene expression (left). HLA class I and II genes (listed on the right and left sides of each vertical bar, respectively) whose mean expression values are above the cutoff of expressed genes were ranked according to the association strength (t-statistic, negative [−; bottom] or positive [+; top]; see Table S5 for details) in the expression data (Consortium lung phenotype, n = 754; age of onset, n = 455; MI, n = 706). GWAS rank (right). HLA genes represented in the GWAS panel (n = 1,978) are depicted according to strength of association to Consortium lung phenotype. For GWAS rank, p values are provided as a reference to aid interpretation. The width of the vertical bar represents the relative strength of the association finding. Individual genes are color coded for convenience. GeneSetScan software was utilized to provide gene ranks for the HLA genes. The American Journal of Human Genetics 2015 96, 318-328DOI: (10.1016/j.ajhg.2014.12.022) Copyright © 2015 The American Society of Human Genetics Terms and Conditions