Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene
The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a...
Gespeichert in:
| Veröffentlicht in: | Science (American Association for the Advancement of Science) 2006-12, Vol.314 (5804), p.1461-1463 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1463 |
|---|---|
| container_issue | 5804 |
| container_start_page | 1461 |
| container_title | Science (American Association for the Advancement of Science) |
| container_volume | 314 |
| creator | Duerr, Richard H Taylor, Kent D Brant, Steven R Rioux, John D Silverberg, Mark S Daly, Mark J Steinhart, A. Hillary Abraham, Clara Regueiro, Miguel Griffiths, Anne Dassopoulos, Themistocles Bitton, Alain Yang, Huiying Targan, Stephan Datta, Lisa Wu Kistner, Emily O Schumm, L. Philip Lee, Annette T Gregersen, Peter K Barmada, M. Michael Rotter, Jerome I Nicolae, Dan L Cho, Judy H |
| description | The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a highly significant association between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23. An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease. |
| doi_str_mv | 10.1126/science.1135245 |
| format | Article |
| fullrecord | <record><control><sourceid>jstor_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4410764</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><jstor_id>20032942</jstor_id><sourcerecordid>20032942</sourcerecordid><originalsourceid>FETCH-LOGICAL-c556t-fb37dc4804d409a3f321306e92e379f6bc970ae3deeb49d91831ac827c483873</originalsourceid><addsrcrecordid>eNqFks9rFDEcxYNY7Fo9e1KDoLex-TmZXIS2al1YEOyKx5DNfKdmmUlqMlPZ_75ZdmjVi6cQ3ieP9_2-IPSCkveUsvo0Ow_BQblwyYR8hBaUaFlpRvhjtCCE11VDlDxGT3PeElI0zZ-gY6pI3TDGF2h9CSEOUP3wLeCznKPzdvQx4Ktxand42UIYfech4-WK8W_YZmwDXoaut8Ngx5h2-Dz-hh5_9BlsBlz84Bk66myf4fl8nqD150_riy_V6uvl8uJsVTkp67HqNly1TjREtIJoyzvOKCc1aAZc6a7eOK2IBd4CbIRuNW04ta5hqrzhjeIn6MPB9mbaDNC6EjXZ3twkP9i0M9F687cS_E9zHW-NEJSoWhSDd7NBir8myKMZfHbQ9zZAnLIpOyKKUvlfkEuqa6lYAd_8A27jlEJZgimzyZKd73OfHiCXYs4JuvvIlJh9rWau1cy1lhev_pz0gZ97LMDbGbDZ2b5LNjifH7hGFErvJ3554La5dHevs_JTmBb7_K8PemejsdepeHy_YqTUQilt6rL3O9ldves</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>213582737</pqid></control><display><type>article</type><title>Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene</title><source>American Association for the Advancement of Science</source><source>Jstor Complete Legacy</source><source>MEDLINE</source><creator>Duerr, Richard H ; Taylor, Kent D ; Brant, Steven R ; Rioux, John D ; Silverberg, Mark S ; Daly, Mark J ; Steinhart, A. Hillary ; Abraham, Clara ; Regueiro, Miguel ; Griffiths, Anne ; Dassopoulos, Themistocles ; Bitton, Alain ; Yang, Huiying ; Targan, Stephan ; Datta, Lisa Wu ; Kistner, Emily O ; Schumm, L. Philip ; Lee, Annette T ; Gregersen, Peter K ; Barmada, M. Michael ; Rotter, Jerome I ; Nicolae, Dan L ; Cho, Judy H</creator><creatorcontrib>Duerr, Richard H ; Taylor, Kent D ; Brant, Steven R ; Rioux, John D ; Silverberg, Mark S ; Daly, Mark J ; Steinhart, A. Hillary ; Abraham, Clara ; Regueiro, Miguel ; Griffiths, Anne ; Dassopoulos, Themistocles ; Bitton, Alain ; Yang, Huiying ; Targan, Stephan ; Datta, Lisa Wu ; Kistner, Emily O ; Schumm, L. Philip ; Lee, Annette T ; Gregersen, Peter K ; Barmada, M. Michael ; Rotter, Jerome I ; Nicolae, Dan L ; Cho, Judy H</creatorcontrib><description>The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a highly significant association between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23. An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.1135245</identifier><identifier>PMID: 17068223</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Association for the Advancement of Science</publisher><subject>Alleles ; Biological and medical sciences ; Case-Control Studies ; Chromosomes ; Chromosomes, Human, Pair 1 - genetics ; Classical genetics, quantitative genetics, hybrids ; Cohort Studies ; Colitis, Ulcerative - genetics ; Crohn disease ; Crohn Disease - genetics ; Crohn's disease ; Cytokines ; Fundamental and applied biological sciences. Psychology ; Gastroenterology. Liver. Pancreas. Abdomen ; Genes ; Genetic factors ; Genetic Markers ; Genetic Predisposition to Disease ; Genetic Testing ; Genetics of eukaryotes. Biological and molecular evolution ; Genome, Human ; Genomics ; Haplotypes ; Human ; Human genetics ; Humans ; Inflammatory bowel disease ; Inflammatory bowel diseases ; Interleukin-23 - metabolism ; Introns ; Jews - genetics ; Linkage Disequilibrium ; Medical genetics ; Medical sciences ; Other diseases. Semiology ; P values ; Polymorphism, Single Nucleotide ; Receptors ; Receptors, Interleukin - genetics ; Receptors, Interleukin - physiology ; Signal Transduction ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><ispartof>Science (American Association for the Advancement of Science), 2006-12, Vol.314 (5804), p.1461-1463</ispartof><rights>Copyright 2006 American Association for the Advancement of Science</rights><rights>2007 INIST-CNRS</rights><rights>Copyright American Association for the Advancement of Science Dec 1, 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c556t-fb37dc4804d409a3f321306e92e379f6bc970ae3deeb49d91831ac827c483873</citedby><cites>FETCH-LOGICAL-c556t-fb37dc4804d409a3f321306e92e379f6bc970ae3deeb49d91831ac827c483873</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/20032942$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/20032942$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,776,780,799,881,2871,2872,27901,27902,57992,58225</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18422394$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17068223$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Duerr, Richard H</creatorcontrib><creatorcontrib>Taylor, Kent D</creatorcontrib><creatorcontrib>Brant, Steven R</creatorcontrib><creatorcontrib>Rioux, John D</creatorcontrib><creatorcontrib>Silverberg, Mark S</creatorcontrib><creatorcontrib>Daly, Mark J</creatorcontrib><creatorcontrib>Steinhart, A. Hillary</creatorcontrib><creatorcontrib>Abraham, Clara</creatorcontrib><creatorcontrib>Regueiro, Miguel</creatorcontrib><creatorcontrib>Griffiths, Anne</creatorcontrib><creatorcontrib>Dassopoulos, Themistocles</creatorcontrib><creatorcontrib>Bitton, Alain</creatorcontrib><creatorcontrib>Yang, Huiying</creatorcontrib><creatorcontrib>Targan, Stephan</creatorcontrib><creatorcontrib>Datta, Lisa Wu</creatorcontrib><creatorcontrib>Kistner, Emily O</creatorcontrib><creatorcontrib>Schumm, L. Philip</creatorcontrib><creatorcontrib>Lee, Annette T</creatorcontrib><creatorcontrib>Gregersen, Peter K</creatorcontrib><creatorcontrib>Barmada, M. Michael</creatorcontrib><creatorcontrib>Rotter, Jerome I</creatorcontrib><creatorcontrib>Nicolae, Dan L</creatorcontrib><creatorcontrib>Cho, Judy H</creatorcontrib><title>Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a highly significant association between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23. An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Cohort Studies</subject><subject>Colitis, Ulcerative - genetics</subject><subject>Crohn disease</subject><subject>Crohn Disease - genetics</subject><subject>Crohn's disease</subject><subject>Cytokines</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genes</subject><subject>Genetic factors</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome, Human</subject><subject>Genomics</subject><subject>Haplotypes</subject><subject>Human</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Inflammatory bowel disease</subject><subject>Inflammatory bowel diseases</subject><subject>Interleukin-23 - metabolism</subject><subject>Introns</subject><subject>Jews - genetics</subject><subject>Linkage Disequilibrium</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Other diseases. Semiology</subject><subject>P values</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Receptors</subject><subject>Receptors, Interleukin - genetics</subject><subject>Receptors, Interleukin - physiology</subject><subject>Signal Transduction</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFks9rFDEcxYNY7Fo9e1KDoLex-TmZXIS2al1YEOyKx5DNfKdmmUlqMlPZ_75ZdmjVi6cQ3ieP9_2-IPSCkveUsvo0Ow_BQblwyYR8hBaUaFlpRvhjtCCE11VDlDxGT3PeElI0zZ-gY6pI3TDGF2h9CSEOUP3wLeCznKPzdvQx4Ktxand42UIYfech4-WK8W_YZmwDXoaut8Ngx5h2-Dz-hh5_9BlsBlz84Bk66myf4fl8nqD150_riy_V6uvl8uJsVTkp67HqNly1TjREtIJoyzvOKCc1aAZc6a7eOK2IBd4CbIRuNW04ta5hqrzhjeIn6MPB9mbaDNC6EjXZ3twkP9i0M9F687cS_E9zHW-NEJSoWhSDd7NBir8myKMZfHbQ9zZAnLIpOyKKUvlfkEuqa6lYAd_8A27jlEJZgimzyZKd73OfHiCXYs4JuvvIlJh9rWau1cy1lhev_pz0gZ97LMDbGbDZ2b5LNjifH7hGFErvJ3554La5dHevs_JTmBb7_K8PemejsdepeHy_YqTUQilt6rL3O9ldves</recordid><startdate>20061201</startdate><enddate>20061201</enddate><creator>Duerr, Richard H</creator><creator>Taylor, Kent D</creator><creator>Brant, Steven R</creator><creator>Rioux, John D</creator><creator>Silverberg, Mark S</creator><creator>Daly, Mark J</creator><creator>Steinhart, A. Hillary</creator><creator>Abraham, Clara</creator><creator>Regueiro, Miguel</creator><creator>Griffiths, Anne</creator><creator>Dassopoulos, Themistocles</creator><creator>Bitton, Alain</creator><creator>Yang, Huiying</creator><creator>Targan, Stephan</creator><creator>Datta, Lisa Wu</creator><creator>Kistner, Emily O</creator><creator>Schumm, L. Philip</creator><creator>Lee, Annette T</creator><creator>Gregersen, Peter K</creator><creator>Barmada, M. Michael</creator><creator>Rotter, Jerome I</creator><creator>Nicolae, Dan L</creator><creator>Cho, Judy H</creator><general>American Association for the Advancement of Science</general><general>The American Association for the Advancement of Science</general><scope>FBQ</scope><scope>IQODW</scope><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>7QF</scope><scope>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QQ</scope><scope>7QR</scope><scope>7SC</scope><scope>7SE</scope><scope>7SN</scope><scope>7SP</scope><scope>7SR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TA</scope><scope>7TB</scope><scope>7TK</scope><scope>7TM</scope><scope>7U5</scope><scope>7U9</scope><scope>8BQ</scope><scope>8FD</scope><scope>C1K</scope><scope>F28</scope><scope>FR3</scope><scope>H8D</scope><scope>H8G</scope><scope>H94</scope><scope>JG9</scope><scope>JQ2</scope><scope>K9.</scope><scope>KR7</scope><scope>L7M</scope><scope>L~C</scope><scope>L~D</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20061201</creationdate><title>Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene</title><author>Duerr, Richard H ; Taylor, Kent D ; Brant, Steven R ; Rioux, John D ; Silverberg, Mark S ; Daly, Mark J ; Steinhart, A. Hillary ; Abraham, Clara ; Regueiro, Miguel ; Griffiths, Anne ; Dassopoulos, Themistocles ; Bitton, Alain ; Yang, Huiying ; Targan, Stephan ; Datta, Lisa Wu ; Kistner, Emily O ; Schumm, L. Philip ; Lee, Annette T ; Gregersen, Peter K ; Barmada, M. Michael ; Rotter, Jerome I ; Nicolae, Dan L ; Cho, Judy H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c556t-fb37dc4804d409a3f321306e92e379f6bc970ae3deeb49d91831ac827c483873</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Cohort Studies</topic><topic>Colitis, Ulcerative - genetics</topic><topic>Crohn disease</topic><topic>Crohn Disease - genetics</topic><topic>Crohn's disease</topic><topic>Cytokines</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Genes</topic><topic>Genetic factors</topic><topic>Genetic Markers</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genome, Human</topic><topic>Genomics</topic><topic>Haplotypes</topic><topic>Human</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Inflammatory bowel disease</topic><topic>Inflammatory bowel diseases</topic><topic>Interleukin-23 - metabolism</topic><topic>Introns</topic><topic>Jews - genetics</topic><topic>Linkage Disequilibrium</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Other diseases. Semiology</topic><topic>P values</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Receptors</topic><topic>Receptors, Interleukin - genetics</topic><topic>Receptors, Interleukin - physiology</topic><topic>Signal Transduction</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Duerr, Richard H</creatorcontrib><creatorcontrib>Taylor, Kent D</creatorcontrib><creatorcontrib>Brant, Steven R</creatorcontrib><creatorcontrib>Rioux, John D</creatorcontrib><creatorcontrib>Silverberg, Mark S</creatorcontrib><creatorcontrib>Daly, Mark J</creatorcontrib><creatorcontrib>Steinhart, A. Hillary</creatorcontrib><creatorcontrib>Abraham, Clara</creatorcontrib><creatorcontrib>Regueiro, Miguel</creatorcontrib><creatorcontrib>Griffiths, Anne</creatorcontrib><creatorcontrib>Dassopoulos, Themistocles</creatorcontrib><creatorcontrib>Bitton, Alain</creatorcontrib><creatorcontrib>Yang, Huiying</creatorcontrib><creatorcontrib>Targan, Stephan</creatorcontrib><creatorcontrib>Datta, Lisa Wu</creatorcontrib><creatorcontrib>Kistner, Emily O</creatorcontrib><creatorcontrib>Schumm, L. Philip</creatorcontrib><creatorcontrib>Lee, Annette T</creatorcontrib><creatorcontrib>Gregersen, Peter K</creatorcontrib><creatorcontrib>Barmada, M. Michael</creatorcontrib><creatorcontrib>Rotter, Jerome I</creatorcontrib><creatorcontrib>Nicolae, Dan L</creatorcontrib><creatorcontrib>Cho, Judy H</creatorcontrib><collection>AGRIS</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Aluminium Industry Abstracts</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Ceramic Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Computer and Information Systems Abstracts</collection><collection>Corrosion Abstracts</collection><collection>Ecology Abstracts</collection><collection>Electronics & Communications Abstracts</collection><collection>Engineered Materials Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Materials Business File</collection><collection>Mechanical & Transportation Engineering Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Solid State and Superconductivity Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>METADEX</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ANTE: Abstracts in New Technology & Engineering</collection><collection>Engineering Research Database</collection><collection>Aerospace Database</collection><collection>Copper Technical Reference Library</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Materials Research Database</collection><collection>ProQuest Computer Science Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Civil Engineering Abstracts</collection><collection>Advanced Technologies Database with Aerospace</collection><collection>Computer and Information Systems Abstracts Academic</collection><collection>Computer and Information Systems Abstracts Professional</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Science (American Association for the Advancement of Science)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Duerr, Richard H</au><au>Taylor, Kent D</au><au>Brant, Steven R</au><au>Rioux, John D</au><au>Silverberg, Mark S</au><au>Daly, Mark J</au><au>Steinhart, A. Hillary</au><au>Abraham, Clara</au><au>Regueiro, Miguel</au><au>Griffiths, Anne</au><au>Dassopoulos, Themistocles</au><au>Bitton, Alain</au><au>Yang, Huiying</au><au>Targan, Stephan</au><au>Datta, Lisa Wu</au><au>Kistner, Emily O</au><au>Schumm, L. Philip</au><au>Lee, Annette T</au><au>Gregersen, Peter K</au><au>Barmada, M. Michael</au><au>Rotter, Jerome I</au><au>Nicolae, Dan L</au><au>Cho, Judy H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene</atitle><jtitle>Science (American Association for the Advancement of Science)</jtitle><addtitle>Science</addtitle><date>2006-12-01</date><risdate>2006</risdate><volume>314</volume><issue>5804</issue><spage>1461</spage><epage>1463</epage><pages>1461-1463</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><coden>SCIEAS</coden><abstract>The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a highly significant association between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23. An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease.</abstract><cop>Washington, DC</cop><pub>American Association for the Advancement of Science</pub><pmid>17068223</pmid><doi>10.1126/science.1135245</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 2006-12, Vol.314 (5804), p.1461-1463 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4410764 |
| source | American Association for the Advancement of Science; Jstor Complete Legacy; MEDLINE |
| subjects | Alleles Biological and medical sciences Case-Control Studies Chromosomes Chromosomes, Human, Pair 1 - genetics Classical genetics, quantitative genetics, hybrids Cohort Studies Colitis, Ulcerative - genetics Crohn disease Crohn Disease - genetics Crohn's disease Cytokines Fundamental and applied biological sciences. Psychology Gastroenterology. Liver. Pancreas. Abdomen Genes Genetic factors Genetic Markers Genetic Predisposition to Disease Genetic Testing Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genomics Haplotypes Human Human genetics Humans Inflammatory bowel disease Inflammatory bowel diseases Interleukin-23 - metabolism Introns Jews - genetics Linkage Disequilibrium Medical genetics Medical sciences Other diseases. Semiology P values Polymorphism, Single Nucleotide Receptors Receptors, Interleukin - genetics Receptors, Interleukin - physiology Signal Transduction Stomach. Duodenum. Small intestine. Colon. Rectum. Anus |
| title | Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-08T14%3A53%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-jstor_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genome-Wide%20Association%20Study%20Identifies%20IL23R%20as%20an%20Inflammatory%20Bowel%20Disease%20Gene&rft.jtitle=Science%20(American%20Association%20for%20the%20Advancement%20of%20Science)&rft.au=Duerr,%20Richard%20H&rft.date=2006-12-01&rft.volume=314&rft.issue=5804&rft.spage=1461&rft.epage=1463&rft.pages=1461-1463&rft.issn=0036-8075&rft.eissn=1095-9203&rft.coden=SCIEAS&rft_id=info:doi/10.1126/science.1135245&rft_dat=%3Cjstor_pubme%3E20032942%3C/jstor_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=213582737&rft_id=info:pmid/17068223&rft_jstor_id=20032942&rfr_iscdi=true |