Volume 133, Issue 3, Pages 808-817 (September 2007) Neuropeptide S Receptor 1 Gene Polymorphism Is Associated With Susceptibility to Inflammatory Bowel Disease  Mauro D’Amato, Sara Bruce, Francesca Bresso, Marco Zucchelli, Sini Ezer, Ville Pulkkinen, Cecilia Lindgren, Marco Astegiano, Mario Rizzetto, Paolo Gionchetti, Gabriele Riegler, Raffaello Sostegni, Marco Daperno, Sandra D’Alfonso, Patricia Momigliano–Richiardi, Leif Torkvist, Pauli Puolakkainen, Maarit Lappalainen, Paulina Paavola–Sakki, Leena Halme, Martti Farkkila, Ulla Turunen, Kimmo Kontula, Robert Lofberg, Sven Pettersson, Juha Kere  Gastroenterology  Volume 133, Issue 3, Pages 808-817 (September 2007) DOI: 10.1053/j.gastro.2007.06.012 Copyright © 2007 AGA Institute Terms and Conditions

Figure 1 LD of the studied NPSR1 SNPs. (A) LD and haplotype block structure obtained by Haploview 3.2 analysis of the whole dataset (Italian, Swedish, and Finnish samples combined). The numbers in each box correspond to LD coefficient D’ between respective SNPs (only values for LD < 100% are reported). The SNPs are ordered according to their position in the gene, and NPSR1 direction of transcription is shown on top. (B) Control frequencies for the NPSR1 variants (haplotypes from block 1 and SNP rs324981 alleles) in the 3 individual populations, and in the entire dataset. Gastroenterology 2007 133, 808-817DOI: (10.1053/j.gastro.2007.06.012) Copyright © 2007 AGA Institute Terms and Conditions

Figure 2 Analysis of NPSR1 mRNA expression in IBD patients and controls. (A) NPSR1-A and (B) NPSR1-B mRNA expression was measured by real-time PCR in biopsy specimens from 10 CD patients, 12 UC patients, and 12 controls, and is expressed as arbitrary units on a logarithmic scale (median values as horizontal bars in each group). Four controls, 1 CD, and 3 UC patients had undetectable levels of NPSR1-B. P values (vs controls) were obtained by Mann–Whitney test analysis. Gastroenterology 2007 133, 808-817DOI: (10.1053/j.gastro.2007.06.012) Copyright © 2007 AGA Institute Terms and Conditions

Figure 3 Analysis of NPSR1 protein expression in IBD patients and controls. NPSR1-A (top row) and NPSR1-B (bottom row)–specific antibodies were used to measure protein expression by immunohistochemistry on intestinal biopsy specimens from IBD patients and controls. The pictures shown are representative of 4 IBD and 5 control specimens analyzed, respectively. Control stainings with NPSR1-A (top right corner) and NPSR1-B (bottom right corner) pre-immune sera also are reported. Gastroenterology 2007 133, 808-817DOI: (10.1053/j.gastro.2007.06.012) Copyright © 2007 AGA Institute Terms and Conditions

Figure 4 Analysis of NPSR1 mRNA expression in leukocytes. (A) NPSR1-A and (B) NPSR1-B mRNA expression was measured in resting (□) and activated () mononuclear cells (mono), B cells (CD19+), and T cells (CD4+ and CD8+) by real-time PCR analysis of the Human Blood Fractions MTC Panel. Expression levels are reported on a logarithmic scale as fold-change (mean ± SEM) relative to resting cells, which have been chosen as reference for each cell type. Gastroenterology 2007 133, 808-817DOI: (10.1053/j.gastro.2007.06.012) Copyright © 2007 AGA Institute Terms and Conditions

Figure 5 Analysis of NPSR1 mRNA expression in H2 haplotype carriers and noncarriers. NPSR1-A and NPSR1-B mRNA expression was measured by real-time PCR in biopsy specimens from 22 IBD patients, and is reported in the box-plot according to H2 haplotype carrier status in arbitrary units on a logarithmic scale. Four patients had undetectable levels of NPSR1-B mRNA. P values (carriers vs noncarriers) were obtained by Mann–Whitney test analysis. Gastroenterology 2007 133, 808-817DOI: (10.1053/j.gastro.2007.06.012) Copyright © 2007 AGA Institute Terms and Conditions