Neuropeptide S Receptor 1 Gene Polymorphism Is Associated With Susceptibility to Inflammatory Bowel Disease
Background & Aims: The neuropeptide S receptor (NPSR1) gene has been associated recently with asthma and maps in a region of chromosome 7 previously linked also to inflammatory bowel disease (IBD). NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be u...
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| Veröffentlicht in: | Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 2007-09, Vol.133 (3), p.808-817 |
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| creator | D’Amato, Mauro Bruce, Sara Bresso, Francesca Zucchelli, Marco Ezer, Sini Pulkkinen, Ville Lindgren, Cecilia Astegiano, Marco Rizzetto, Mario Gionchetti, Paolo Riegler, Gabriele Sostegni, Raffaello Daperno, Marco D’Alfonso, Sandra Momigliano–Richiardi, Patricia Torkvist, Leif Puolakkainen, Pauli Lappalainen, Maarit Paavola–Sakki, Paulina Halme, Leena Farkkila, Martti Turunen, Ulla Kontula, Kimmo Lofberg, Robert Pettersson, Sven Kere, Juha |
| description | Background & Aims: The neuropeptide S receptor (NPSR1) gene has been associated recently with asthma and maps in a region of chromosome 7 previously linked also to inflammatory bowel disease (IBD). NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be up-regulated in inflammation. We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients. Methods: Eight NPSR1 polymorphisms were genotyped in 2490 subjects from 3 cohorts of IBD patients and controls from Italy, Sweden, and Finland. Real-time polymerase chain reaction and immunohistochemistry were used to quantify NPSR1 messenger RNA (mRNA) and protein expression in intestinal biopsy specimens from IBD patients and controls. Results: Global analysis of the whole dataset identified strong association of a NPSR1 haplotype block with IBD ( P = .0018) and its 2 major forms: Crohn’s disease (CD) ( P = .026) and ulcerative colitis (UC) ( P = .003). Genetic effects caused by individual haplotypes were identified mainly for the predisposing haplotype H2 in CD ( P = .0005) and the protective haplotype H8 in UC ( P = .003). NPSR1 mRNA and protein levels were increased in IBD patients compared with controls, and the risk haplotype H2 correlated with higher expression of both NPSR1-A ( P = .024) and NPSR1-B ( P = .047) mRNAs. Conclusions: NPSR1 polymorphism is associated with IBD susceptibility. Specific NPSR1 alleles might act as genetic risk factors for chronic inflammatory diseases of the epithelial barrier organs. |
| doi_str_mv | 10.1053/j.gastro.2007.06.012 |
| format | Article |
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NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be up-regulated in inflammation. We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients. Methods: Eight NPSR1 polymorphisms were genotyped in 2490 subjects from 3 cohorts of IBD patients and controls from Italy, Sweden, and Finland. Real-time polymerase chain reaction and immunohistochemistry were used to quantify NPSR1 messenger RNA (mRNA) and protein expression in intestinal biopsy specimens from IBD patients and controls. Results: Global analysis of the whole dataset identified strong association of a NPSR1 haplotype block with IBD ( P = .0018) and its 2 major forms: Crohn’s disease (CD) ( P = .026) and ulcerative colitis (UC) ( P = .003). Genetic effects caused by individual haplotypes were identified mainly for the predisposing haplotype H2 in CD ( P = .0005) and the protective haplotype H8 in UC ( P = .003). NPSR1 mRNA and protein levels were increased in IBD patients compared with controls, and the risk haplotype H2 correlated with higher expression of both NPSR1-A ( P = .024) and NPSR1-B ( P = .047) mRNAs. Conclusions: NPSR1 polymorphism is associated with IBD susceptibility. Specific NPSR1 alleles might act as genetic risk factors for chronic inflammatory diseases of the epithelial barrier organs.</description><identifier>ISSN: 0016-5085</identifier><identifier>EISSN: 1528-0012</identifier><identifier>DOI: 10.1053/j.gastro.2007.06.012</identifier><identifier>PMID: 17854592</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Biopsy ; Case-Control Studies ; Colitis, Ulcerative - genetics ; Crohn Disease - genetics ; Female ; Gastroenterology and Hepatology ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Inflammatory Bowel Diseases - genetics ; Inflammatory Bowel Diseases - metabolism ; Inflammatory Bowel Diseases - pathology ; Intestines - metabolism ; Intestines - pathology ; Male ; Middle Aged ; Polymorphism, Single Nucleotide - genetics ; Receptors, G-Protein-Coupled - genetics ; Receptors, G-Protein-Coupled - metabolism ; Risk Factors ; RNA, Messenger - genetics ; RNA, Messenger - metabolism</subject><ispartof>Gastroenterology (New York, N.Y. 1943), 2007-09, Vol.133 (3), p.808-817</ispartof><rights>AGA Institute</rights><rights>2007 AGA Institute</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c499t-5c33dd46daa488444c93fb12a1751ea6549dfc277f2edc700d26d00a73470e8b3</citedby><cites>FETCH-LOGICAL-c499t-5c33dd46daa488444c93fb12a1751ea6549dfc277f2edc700d26d00a73470e8b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0016508507011523$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17854592$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:115820325$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>D’Amato, Mauro</creatorcontrib><creatorcontrib>Bruce, Sara</creatorcontrib><creatorcontrib>Bresso, Francesca</creatorcontrib><creatorcontrib>Zucchelli, Marco</creatorcontrib><creatorcontrib>Ezer, Sini</creatorcontrib><creatorcontrib>Pulkkinen, Ville</creatorcontrib><creatorcontrib>Lindgren, Cecilia</creatorcontrib><creatorcontrib>Astegiano, Marco</creatorcontrib><creatorcontrib>Rizzetto, Mario</creatorcontrib><creatorcontrib>Gionchetti, Paolo</creatorcontrib><creatorcontrib>Riegler, Gabriele</creatorcontrib><creatorcontrib>Sostegni, Raffaello</creatorcontrib><creatorcontrib>Daperno, Marco</creatorcontrib><creatorcontrib>D’Alfonso, Sandra</creatorcontrib><creatorcontrib>Momigliano–Richiardi, Patricia</creatorcontrib><creatorcontrib>Torkvist, Leif</creatorcontrib><creatorcontrib>Puolakkainen, Pauli</creatorcontrib><creatorcontrib>Lappalainen, Maarit</creatorcontrib><creatorcontrib>Paavola–Sakki, Paulina</creatorcontrib><creatorcontrib>Halme, Leena</creatorcontrib><creatorcontrib>Farkkila, Martti</creatorcontrib><creatorcontrib>Turunen, Ulla</creatorcontrib><creatorcontrib>Kontula, Kimmo</creatorcontrib><creatorcontrib>Lofberg, Robert</creatorcontrib><creatorcontrib>Pettersson, Sven</creatorcontrib><creatorcontrib>Kere, Juha</creatorcontrib><title>Neuropeptide S Receptor 1 Gene Polymorphism Is Associated With Susceptibility to Inflammatory Bowel Disease</title><title>Gastroenterology (New York, N.Y. 1943)</title><addtitle>Gastroenterology</addtitle><description>Background & Aims: The neuropeptide S receptor (NPSR1) gene has been associated recently with asthma and maps in a region of chromosome 7 previously linked also to inflammatory bowel disease (IBD). NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be up-regulated in inflammation. We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients. Methods: Eight NPSR1 polymorphisms were genotyped in 2490 subjects from 3 cohorts of IBD patients and controls from Italy, Sweden, and Finland. Real-time polymerase chain reaction and immunohistochemistry were used to quantify NPSR1 messenger RNA (mRNA) and protein expression in intestinal biopsy specimens from IBD patients and controls. Results: Global analysis of the whole dataset identified strong association of a NPSR1 haplotype block with IBD ( P = .0018) and its 2 major forms: Crohn’s disease (CD) ( P = .026) and ulcerative colitis (UC) ( P = .003). Genetic effects caused by individual haplotypes were identified mainly for the predisposing haplotype H2 in CD ( P = .0005) and the protective haplotype H8 in UC ( P = .003). NPSR1 mRNA and protein levels were increased in IBD patients compared with controls, and the risk haplotype H2 correlated with higher expression of both NPSR1-A ( P = .024) and NPSR1-B ( P = .047) mRNAs. Conclusions: NPSR1 polymorphism is associated with IBD susceptibility. Specific NPSR1 alleles might act as genetic risk factors for chronic inflammatory diseases of the epithelial barrier organs.</description><subject>Adult</subject><subject>Biopsy</subject><subject>Case-Control Studies</subject><subject>Colitis, Ulcerative - genetics</subject><subject>Crohn Disease - genetics</subject><subject>Female</subject><subject>Gastroenterology and Hepatology</subject><subject>Gene Expression Regulation</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Inflammatory Bowel Diseases - genetics</subject><subject>Inflammatory Bowel Diseases - metabolism</subject><subject>Inflammatory Bowel Diseases - pathology</subject><subject>Intestines - metabolism</subject><subject>Intestines - pathology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Receptors, G-Protein-Coupled - genetics</subject><subject>Receptors, G-Protein-Coupled - metabolism</subject><subject>Risk Factors</subject><subject>RNA, Messenger - genetics</subject><subject>RNA, Messenger - metabolism</subject><issn>0016-5085</issn><issn>1528-0012</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFktGL1DAQxoso3nr6H4jkybfWSZo07YtwnnouHCqu4mPIJlMvu21Tk9aj_70puyj44tN8hN98YeabLHtOoaAgyleH4oeOU_AFA5AFVAVQ9iDbUMHqHJJ-mG1SqXIBtbjInsR4AICmrOnj7ILKWnDRsE12_Ihz8COOk7NIduQLmqR9IJTc4IDks--W3ofxzsWebCO5itEbpye05Lub7shujmuD27vOTQuZPNkObaf7XieThbzx99iRty6ijvg0e9TqLuKzc73Mvr1_9_X6Q3776WZ7fXWbG940Uy5MWVrLK6s1r2vOuWnKdk-ZplJQ1JXgjW0Nk7JlaI0EsKyyAFqWXALW-_Iyy0--8R7Hea_G4HodFuW1U-enY1KoRFWzBhL_8sSPwf-cMU6qd2mqrtMD-jmqREnOpEggP4Em-BgDtn-sKag1FHVQp1DUGoqCSqUgUtuLs_-879H-bTqnkIDXJwDTVn45DCoah4NB6wKaSVnv_vfDvwamc4MzujvigvHg5zCkjSuqIlOgduthrHcBEmg6mLL8DZcjtf0</recordid><startdate>20070901</startdate><enddate>20070901</enddate><creator>D’Amato, Mauro</creator><creator>Bruce, Sara</creator><creator>Bresso, Francesca</creator><creator>Zucchelli, Marco</creator><creator>Ezer, Sini</creator><creator>Pulkkinen, Ville</creator><creator>Lindgren, Cecilia</creator><creator>Astegiano, Marco</creator><creator>Rizzetto, Mario</creator><creator>Gionchetti, Paolo</creator><creator>Riegler, Gabriele</creator><creator>Sostegni, Raffaello</creator><creator>Daperno, Marco</creator><creator>D’Alfonso, Sandra</creator><creator>Momigliano–Richiardi, Patricia</creator><creator>Torkvist, Leif</creator><creator>Puolakkainen, Pauli</creator><creator>Lappalainen, Maarit</creator><creator>Paavola–Sakki, Paulina</creator><creator>Halme, Leena</creator><creator>Farkkila, Martti</creator><creator>Turunen, Ulla</creator><creator>Kontula, Kimmo</creator><creator>Lofberg, Robert</creator><creator>Pettersson, Sven</creator><creator>Kere, Juha</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope></search><sort><creationdate>20070901</creationdate><title>Neuropeptide S Receptor 1 Gene Polymorphism Is Associated With Susceptibility to Inflammatory Bowel Disease</title><author>D’Amato, Mauro ; Bruce, Sara ; Bresso, Francesca ; Zucchelli, Marco ; Ezer, Sini ; Pulkkinen, Ville ; Lindgren, Cecilia ; Astegiano, Marco ; Rizzetto, Mario ; Gionchetti, Paolo ; Riegler, Gabriele ; Sostegni, Raffaello ; Daperno, Marco ; D’Alfonso, Sandra ; Momigliano–Richiardi, Patricia ; Torkvist, Leif ; Puolakkainen, Pauli ; Lappalainen, Maarit ; Paavola–Sakki, Paulina ; Halme, Leena ; Farkkila, Martti ; Turunen, Ulla ; Kontula, Kimmo ; Lofberg, Robert ; Pettersson, Sven ; Kere, Juha</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c499t-5c33dd46daa488444c93fb12a1751ea6549dfc277f2edc700d26d00a73470e8b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Biopsy</topic><topic>Case-Control Studies</topic><topic>Colitis, Ulcerative - genetics</topic><topic>Crohn Disease - genetics</topic><topic>Female</topic><topic>Gastroenterology and Hepatology</topic><topic>Gene Expression Regulation</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Inflammatory Bowel Diseases - genetics</topic><topic>Inflammatory Bowel Diseases - metabolism</topic><topic>Inflammatory Bowel Diseases - pathology</topic><topic>Intestines - metabolism</topic><topic>Intestines - pathology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Receptors, G-Protein-Coupled - genetics</topic><topic>Receptors, G-Protein-Coupled - metabolism</topic><topic>Risk Factors</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>D’Amato, Mauro</creatorcontrib><creatorcontrib>Bruce, Sara</creatorcontrib><creatorcontrib>Bresso, Francesca</creatorcontrib><creatorcontrib>Zucchelli, Marco</creatorcontrib><creatorcontrib>Ezer, Sini</creatorcontrib><creatorcontrib>Pulkkinen, Ville</creatorcontrib><creatorcontrib>Lindgren, Cecilia</creatorcontrib><creatorcontrib>Astegiano, Marco</creatorcontrib><creatorcontrib>Rizzetto, Mario</creatorcontrib><creatorcontrib>Gionchetti, Paolo</creatorcontrib><creatorcontrib>Riegler, Gabriele</creatorcontrib><creatorcontrib>Sostegni, Raffaello</creatorcontrib><creatorcontrib>Daperno, Marco</creatorcontrib><creatorcontrib>D’Alfonso, Sandra</creatorcontrib><creatorcontrib>Momigliano–Richiardi, Patricia</creatorcontrib><creatorcontrib>Torkvist, Leif</creatorcontrib><creatorcontrib>Puolakkainen, Pauli</creatorcontrib><creatorcontrib>Lappalainen, Maarit</creatorcontrib><creatorcontrib>Paavola–Sakki, Paulina</creatorcontrib><creatorcontrib>Halme, Leena</creatorcontrib><creatorcontrib>Farkkila, Martti</creatorcontrib><creatorcontrib>Turunen, Ulla</creatorcontrib><creatorcontrib>Kontula, Kimmo</creatorcontrib><creatorcontrib>Lofberg, Robert</creatorcontrib><creatorcontrib>Pettersson, Sven</creatorcontrib><creatorcontrib>Kere, Juha</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><jtitle>Gastroenterology (New York, N.Y. 1943)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>D’Amato, Mauro</au><au>Bruce, Sara</au><au>Bresso, Francesca</au><au>Zucchelli, Marco</au><au>Ezer, Sini</au><au>Pulkkinen, Ville</au><au>Lindgren, Cecilia</au><au>Astegiano, Marco</au><au>Rizzetto, Mario</au><au>Gionchetti, Paolo</au><au>Riegler, Gabriele</au><au>Sostegni, Raffaello</au><au>Daperno, Marco</au><au>D’Alfonso, Sandra</au><au>Momigliano–Richiardi, Patricia</au><au>Torkvist, Leif</au><au>Puolakkainen, Pauli</au><au>Lappalainen, Maarit</au><au>Paavola–Sakki, Paulina</au><au>Halme, Leena</au><au>Farkkila, Martti</au><au>Turunen, Ulla</au><au>Kontula, Kimmo</au><au>Lofberg, Robert</au><au>Pettersson, Sven</au><au>Kere, Juha</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neuropeptide S Receptor 1 Gene Polymorphism Is Associated With Susceptibility to Inflammatory Bowel Disease</atitle><jtitle>Gastroenterology (New York, N.Y. 1943)</jtitle><addtitle>Gastroenterology</addtitle><date>2007-09-01</date><risdate>2007</risdate><volume>133</volume><issue>3</issue><spage>808</spage><epage>817</epage><pages>808-817</pages><issn>0016-5085</issn><eissn>1528-0012</eissn><abstract>Background & Aims: The neuropeptide S receptor (NPSR1) gene has been associated recently with asthma and maps in a region of chromosome 7 previously linked also to inflammatory bowel disease (IBD). NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be up-regulated in inflammation. We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients. Methods: Eight NPSR1 polymorphisms were genotyped in 2490 subjects from 3 cohorts of IBD patients and controls from Italy, Sweden, and Finland. Real-time polymerase chain reaction and immunohistochemistry were used to quantify NPSR1 messenger RNA (mRNA) and protein expression in intestinal biopsy specimens from IBD patients and controls. Results: Global analysis of the whole dataset identified strong association of a NPSR1 haplotype block with IBD ( P = .0018) and its 2 major forms: Crohn’s disease (CD) ( P = .026) and ulcerative colitis (UC) ( P = .003). Genetic effects caused by individual haplotypes were identified mainly for the predisposing haplotype H2 in CD ( P = .0005) and the protective haplotype H8 in UC ( P = .003). NPSR1 mRNA and protein levels were increased in IBD patients compared with controls, and the risk haplotype H2 correlated with higher expression of both NPSR1-A ( P = .024) and NPSR1-B ( P = .047) mRNAs. Conclusions: NPSR1 polymorphism is associated with IBD susceptibility. Specific NPSR1 alleles might act as genetic risk factors for chronic inflammatory diseases of the epithelial barrier organs.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>17854592</pmid><doi>10.1053/j.gastro.2007.06.012</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Biopsy Case-Control Studies Colitis, Ulcerative - genetics Crohn Disease - genetics Female Gastroenterology and Hepatology Gene Expression Regulation Genetic Predisposition to Disease Genotype Haplotypes Humans Inflammatory Bowel Diseases - genetics Inflammatory Bowel Diseases - metabolism Inflammatory Bowel Diseases - pathology Intestines - metabolism Intestines - pathology Male Middle Aged Polymorphism, Single Nucleotide - genetics Receptors, G-Protein-Coupled - genetics Receptors, G-Protein-Coupled - metabolism Risk Factors RNA, Messenger - genetics RNA, Messenger - metabolism |
| title | Neuropeptide S Receptor 1 Gene Polymorphism Is Associated With Susceptibility to Inflammatory Bowel Disease |
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