The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis
Objectives:Recent results have shown that the IL23R gene, coding for a subunit of the interleukin-23 receptor, is strongly associated with autoimmunity. The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylo...
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| Veröffentlicht in: | Annals of the rheumatic diseases 2008-10, Vol.67 (10), p.1451-1454 |
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| container_title | Annals of the rheumatic diseases |
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| creator | Rueda, B Orozco, G Raya, E Fernandez-Sueiro, J L Mulero, J Blanco, F J Vilches, C González-Gay, M A Martin, J |
| description | Objectives:Recent results have shown that the IL23R gene, coding for a subunit of the interleukin-23 receptor, is strongly associated with autoimmunity. The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylosing spondylitis (AS).Methods:We carried out a case–control association study in which 365 patients with AS and 500 blood bank donors were included. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected as genetic markers for our association study and were genotyped using a Taqman 5′ allelic discrimination assay.Results:Interestingly, we observed association of two of eight IL23R genotyped SNPs. The strongest effect was conferred by the non-synonymous rs11209026 (Arg381Gln) SNP (odds ratio 0.46 95% confidence interval 0.2 to 0.7 p = 0.001). Similarly, the IL23R rs1343151 SNP showed association with AS genetic susceptibility (odds ratio 0.68 95% confidence interval 0.55 to 0.83 p = 0.0002). After a conditional case–control test we observed that the effect of these two genetic variants was independent of linkage disequilibrium.Conclusions:These results suggest that the IL23R gene seems to be involved in AS genetic predisposition. |
| doi_str_mv | 10.1136/ard.2007.080283 |
| format | Article |
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The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylosing spondylitis (AS).Methods:We carried out a case–control association study in which 365 patients with AS and 500 blood bank donors were included. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected as genetic markers for our association study and were genotyped using a Taqman 5′ allelic discrimination assay.Results:Interestingly, we observed association of two of eight IL23R genotyped SNPs. The strongest effect was conferred by the non-synonymous rs11209026 (Arg381Gln) SNP (odds ratio 0.46 95% confidence interval 0.2 to 0.7 p = 0.001). Similarly, the IL23R rs1343151 SNP showed association with AS genetic susceptibility (odds ratio 0.68 95% confidence interval 0.55 to 0.83 p = 0.0002). After a conditional case–control test we observed that the effect of these two genetic variants was independent of linkage disequilibrium.Conclusions:These results suggest that the IL23R gene seems to be involved in AS genetic predisposition.</description><identifier>ISSN: 0003-4967</identifier><identifier>EISSN: 1468-2060</identifier><identifier>DOI: 10.1136/ard.2007.080283</identifier><identifier>PMID: 18199597</identifier><identifier>CODEN: ARDIAO</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and European League Against Rheumatism</publisher><subject>Autoimmune diseases ; Biological and medical sciences ; Case-Control Studies ; Confidence intervals ; Consortia ; Cytokines ; Diseases of the osteoarticular system ; Diseases of the spine ; Gene Frequency ; Genes ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Health care ; Humans ; Hypotheses ; Hypothesis testing ; Inflammation ; Inflammatory bowel disease ; Inflammatory joint diseases ; Lupus ; Medical sciences ; Pathogenesis ; Polymorphism, Single Nucleotide ; Population ; Receptors, Interleukin - genetics ; Rheumatoid arthritis ; Spondylitis, Ankylosing - genetics ; Spondylitis, Ankylosing - immunology ; Studies</subject><ispartof>Annals of the rheumatic diseases, 2008-10, Vol.67 (10), p.1451-1454</ispartof><rights>2008 BMJ Publishing Group and European League Against Rheumatism</rights><rights>2008 INIST-CNRS</rights><rights>Copyright: 2008 2008 BMJ Publishing Group and European League Against Rheumatism</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b426t-93541b7d7d9ec969a3b1d88469d4c6448e0aed7ada4867a137919939adf5610d3</citedby><cites>FETCH-LOGICAL-b426t-93541b7d7d9ec969a3b1d88469d4c6448e0aed7ada4867a137919939adf5610d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttp://ard.bmj.com/content/67/10/1451.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttp://ard.bmj.com/content/67/10/1451.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,314,776,780,3183,23550,27901,27902,77342,77373</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20645095$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18199597$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rueda, B</creatorcontrib><creatorcontrib>Orozco, G</creatorcontrib><creatorcontrib>Raya, E</creatorcontrib><creatorcontrib>Fernandez-Sueiro, J L</creatorcontrib><creatorcontrib>Mulero, J</creatorcontrib><creatorcontrib>Blanco, F J</creatorcontrib><creatorcontrib>Vilches, C</creatorcontrib><creatorcontrib>González-Gay, M A</creatorcontrib><creatorcontrib>Martin, J</creatorcontrib><title>The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis</title><title>Annals of the rheumatic diseases</title><addtitle>Ann Rheum Dis</addtitle><description>Objectives:Recent results have shown that the IL23R gene, coding for a subunit of the interleukin-23 receptor, is strongly associated with autoimmunity. The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylosing spondylitis (AS).Methods:We carried out a case–control association study in which 365 patients with AS and 500 blood bank donors were included. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected as genetic markers for our association study and were genotyped using a Taqman 5′ allelic discrimination assay.Results:Interestingly, we observed association of two of eight IL23R genotyped SNPs. The strongest effect was conferred by the non-synonymous rs11209026 (Arg381Gln) SNP (odds ratio 0.46 95% confidence interval 0.2 to 0.7 p = 0.001). Similarly, the IL23R rs1343151 SNP showed association with AS genetic susceptibility (odds ratio 0.68 95% confidence interval 0.55 to 0.83 p = 0.0002). After a conditional case–control test we observed that the effect of these two genetic variants was independent of linkage disequilibrium.Conclusions:These results suggest that the IL23R gene seems to be involved in AS genetic predisposition.</description><subject>Autoimmune diseases</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Confidence intervals</subject><subject>Consortia</subject><subject>Cytokines</subject><subject>Diseases of the osteoarticular system</subject><subject>Diseases of the spine</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Health care</subject><subject>Humans</subject><subject>Hypotheses</subject><subject>Hypothesis testing</subject><subject>Inflammation</subject><subject>Inflammatory bowel disease</subject><subject>Inflammatory joint diseases</subject><subject>Lupus</subject><subject>Medical sciences</subject><subject>Pathogenesis</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Receptors, Interleukin - genetics</subject><subject>Rheumatoid arthritis</subject><subject>Spondylitis, Ankylosing - genetics</subject><subject>Spondylitis, Ankylosing - immunology</subject><subject>Studies</subject><issn>0003-4967</issn><issn>1468-2060</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU1r3DAQhkVpaTZpz70VQWkOBW8kS9bHMZh2G1haCGmvqmzJiTa25Eg21P--Wryk0Esv-mCemXnnHQDeYbTFmLArHc22RIhvkUClIC_ABlMmihIx9BJsEEKkoJLxM3Ce0iF_kcDiNTjDAktZSb4Bv-4eLLzZl-QWXsd7IvCu99AHX6Qln8sQ5gTH0OdHHB9cGmAbfGdjgmlOrR0n17jeTQucAtT-celDcv4epjF4s-SAS2_Aq073yb493Rfgx5fPd_XXYv99d1Nf74uGlmwqJKkobrjhRtpWMqlJg40QlElDW0apsEhbw7XRVDCuMeEyj0CkNl3FMDLkAlyudccYnmabJjW4rLDvtbd5CMVkbkCqKoMf_gEPYY4-a1OYcy4qRlmZqauVamNIKdpOjdENOi4KI3W0XmXr1dF6tVqfM96f6s7NYM1f_uR1Bj6eAJ1a3XdR-9alZy7vjFZIHgUWK-fSZH8_x3V8VIwTXqlvP2tV7ySqbyVR-8x_WvlmOPxX5R8ww6f5</recordid><startdate>20081001</startdate><enddate>20081001</enddate><creator>Rueda, B</creator><creator>Orozco, G</creator><creator>Raya, E</creator><creator>Fernandez-Sueiro, J L</creator><creator>Mulero, J</creator><creator>Blanco, F J</creator><creator>Vilches, C</creator><creator>González-Gay, M A</creator><creator>Martin, J</creator><general>BMJ Publishing Group Ltd and European League Against Rheumatism</general><general>BMJ</general><general>Elsevier Limited</general><scope>BSCLL</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9-</scope><scope>K9.</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20081001</creationdate><title>The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis</title><author>Rueda, B ; Orozco, G ; Raya, E ; Fernandez-Sueiro, J L ; Mulero, J ; Blanco, F J ; Vilches, C ; González-Gay, M A ; Martin, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b426t-93541b7d7d9ec969a3b1d88469d4c6448e0aed7ada4867a137919939adf5610d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Autoimmune diseases</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Confidence intervals</topic><topic>Consortia</topic><topic>Cytokines</topic><topic>Diseases of the osteoarticular system</topic><topic>Diseases of the spine</topic><topic>Gene Frequency</topic><topic>Genes</topic><topic>Genetic Markers</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Health care</topic><topic>Humans</topic><topic>Hypotheses</topic><topic>Hypothesis testing</topic><topic>Inflammation</topic><topic>Inflammatory bowel disease</topic><topic>Inflammatory joint diseases</topic><topic>Lupus</topic><topic>Medical sciences</topic><topic>Pathogenesis</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population</topic><topic>Receptors, Interleukin - genetics</topic><topic>Rheumatoid arthritis</topic><topic>Spondylitis, Ankylosing - genetics</topic><topic>Spondylitis, Ankylosing - immunology</topic><topic>Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rueda, B</creatorcontrib><creatorcontrib>Orozco, G</creatorcontrib><creatorcontrib>Raya, E</creatorcontrib><creatorcontrib>Fernandez-Sueiro, J L</creatorcontrib><creatorcontrib>Mulero, J</creatorcontrib><creatorcontrib>Blanco, F J</creatorcontrib><creatorcontrib>Vilches, C</creatorcontrib><creatorcontrib>González-Gay, M A</creatorcontrib><creatorcontrib>Martin, J</creatorcontrib><collection>Istex</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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of the rheumatic diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rueda, B</au><au>Orozco, G</au><au>Raya, E</au><au>Fernandez-Sueiro, J L</au><au>Mulero, J</au><au>Blanco, F J</au><au>Vilches, C</au><au>González-Gay, M A</au><au>Martin, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis</atitle><jtitle>Annals of the rheumatic diseases</jtitle><addtitle>Ann Rheum Dis</addtitle><date>2008-10-01</date><risdate>2008</risdate><volume>67</volume><issue>10</issue><spage>1451</spage><epage>1454</epage><pages>1451-1454</pages><issn>0003-4967</issn><eissn>1468-2060</eissn><coden>ARDIAO</coden><abstract>Objectives:Recent results have shown that the IL23R gene, coding for a subunit of the interleukin-23 receptor, is strongly associated with autoimmunity. The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylosing spondylitis (AS).Methods:We carried out a case–control association study in which 365 patients with AS and 500 blood bank donors were included. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected as genetic markers for our association study and were genotyped using a Taqman 5′ allelic discrimination assay.Results:Interestingly, we observed association of two of eight IL23R genotyped SNPs. The strongest effect was conferred by the non-synonymous rs11209026 (Arg381Gln) SNP (odds ratio 0.46 95% confidence interval 0.2 to 0.7 p = 0.001). Similarly, the IL23R rs1343151 SNP showed association with AS genetic susceptibility (odds ratio 0.68 95% confidence interval 0.55 to 0.83 p = 0.0002). After a conditional case–control test we observed that the effect of these two genetic variants was independent of linkage disequilibrium.Conclusions:These results suggest that the IL23R gene seems to be involved in AS genetic predisposition.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and European League Against Rheumatism</pub><pmid>18199597</pmid><doi>10.1136/ard.2007.080283</doi><tpages>4</tpages></addata></record> |
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| subjects | Autoimmune diseases Biological and medical sciences Case-Control Studies Confidence intervals Consortia Cytokines Diseases of the osteoarticular system Diseases of the spine Gene Frequency Genes Genetic Markers Genetic Predisposition to Disease Genotype Health care Humans Hypotheses Hypothesis testing Inflammation Inflammatory bowel disease Inflammatory joint diseases Lupus Medical sciences Pathogenesis Polymorphism, Single Nucleotide Population Receptors, Interleukin - genetics Rheumatoid arthritis Spondylitis, Ankylosing - genetics Spondylitis, Ankylosing - immunology Studies |
| title | The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis |
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