The SERPINE2 Gene Is Associated with Chronic Obstructive Pulmonary Disease Dawn L. DeMeo, Thomas J. Mariani, Christoph Lange, Sorachai Srisuma, Augusto.

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The SERPINE2 Gene Is Associated with Chronic Obstructive Pulmonary Disease Dawn L. DeMeo, Thomas J. Mariani, Christoph Lange, Sorachai Srisuma, Augusto A. Litonjua, Juan C. Celedón, Stephen L. Lake, John J. Reilly, Harold A. Chapman, Brigham H. Mecham, Kathleen J. Haley, Jody S. Sylvia, David Sparrow, Avrum E. Spira, Jennifer Beane, Victor Pinto-Plata, Frank E. Speizer, Steven D. Shapiro, Scott T. Weiss, Edwin K. Silverman The American Journal of Human Genetics Volume 78, Issue 2, Pages 253-264 (February 2006) DOI: 10.1086/499828 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Gene expression during normal murine lung development. We assessed the expression of genes within the chromosome 2–linked locus, using a microarray data set of normal mouse lung development. Shown are the expression profiles for 25 probe sets, representing 23 mouse orthologues for human genes present within the locus. Signal intensities were determined using MAS 4.0. Most genes were expressed at low levels in the lung (signal intensity <4,000); seven genes were expressed at a signal intensity >4,000. Three of these genes were expressed at a signal intensity >15,000 during at least one time point, including RPL37A (a ribosomal protein), ITM2C (an integral membrane protein highly expressed in brain), and SERPINE2. E = embryonic day; P = postnatal day; AD = adult. The American Journal of Human Genetics 2006 78, 253-264DOI: (10.1086/499828) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 SERPINE2 localization in normal adult mouse lung. Immunohistochemistry for SERPINE2 in the normal adult mouse lung was performed using a rabbit polyclonal antibody (PN1). Staining was evident in small airway (AW)–conducting epithelium (EPI) and in the vascular (V) adventitia in an extracellular matrix-associated (ECM) pattern. No staining was observed for control IgG. The American Journal of Human Genetics 2006 78, 253-264DOI: (10.1086/499828) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 SERPINE2 localization in human lung. SERPINE2 immunostaining was observed in normal (A), emphysematous (C), and asthmatic (D) human lung. Staining was evident in small airway epithelial cells (EPI) and in the vascular adventitia extracellular matrix (ECM). No staining was observed for control IgG (B). The American Journal of Human Genetics 2006 78, 253-264DOI: (10.1086/499828) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 4 Simulated P values for sliding-window haplotype analysis of SNPs in the NETT cases and NAS controls. Graphs of the 6-, 4-, and 2-SNP sliding window–simulated P values (Y-axis) against the midpoint SNP of each sliding window (X-axis), demonstrate the most significant global simulated P value for 2-SNP sliding-window haplotypes in the regions including SNPs rs7579646-rs840088 (P=.02), rs840088-rs7562213 (P=.01), rs7562213-rs920251 (P=.01), rs920251-rs1371029 (P=.02), rs7581619-rs3795877 (P=.02), rs3795877-rs1866153 (P=.04), rs1866153-rs6747096 (P=.004), rs6747096-rs3795879 (P=.02), rs3795879-ss49785624 (P=.02), ss49785624-rs6715768 (P=.02), and rs6715768-rs6738983 (P=.02). The American Journal of Human Genetics 2006 78, 253-264DOI: (10.1086/499828) Copyright © 2006 The American Society of Human Genetics Terms and Conditions