IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population
The interleukin-23 receptor (IL-23R) has been shown to be associated with ankylosing spondylitis (AS) in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population. Three single-nucleotide polymorphisms...
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| description | The interleukin-23 receptor (IL-23R) has been shown to be associated with ankylosing spondylitis (AS) in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population.
Three single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) assay.
The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively). On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively). In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls.
In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS. |
| doi_str_mv | 10.1371/journal.pone.0067505 |
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Three single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) assay.
The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively). On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively). In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls.
In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0067505</identifier><identifier>PMID: 23840727</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Alleles ; Ankylosing spondylitis ; Asian Continental Ancestry Group ; Biology ; Biotechnology industry ; Cytokines ; Deoxyribonucleic acid ; DNA ; Enzymes ; Female ; Gene frequency ; Gene Frequency - genetics ; Genes ; Genetic Predisposition to Disease - genetics ; Genomes ; Haplotypes ; Histocompatibility antigen HLA ; HLA-B27 Antigen - genetics ; Hospitals ; Humans ; Interleukin 23 ; Male ; Medicine ; Pathogenesis ; Patients ; Polymerase chain reaction ; Polymorphism ; Polymorphism, Single Nucleotide - genetics ; Population ; Population studies ; Receptors, Interleukin - genetics ; Restriction fragment length polymorphism ; Rheumatoid arthritis ; Single-nucleotide polymorphism ; Spondylitis ; Spondylitis, Ankylosing - genetics ; Studies ; Uveitis ; Uveitis - genetics</subject><ispartof>PloS one, 2013-06, Vol.8 (6), p.e67505-e67505</ispartof><rights>2013 Dong et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Dong et al 2013 Dong et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-92fe69d8639f8e6108fa985fea2dfd8bc5342832292220c463f16705f344055d3</citedby><cites>FETCH-LOGICAL-c526t-92fe69d8639f8e6108fa985fea2dfd8bc5342832292220c463f16705f344055d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696065/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696065/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23840727$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Rosenbaum, James T.</contributor><creatorcontrib>Dong, Hongtao</creatorcontrib><creatorcontrib>Li, Qiuming</creatorcontrib><creatorcontrib>Zhang, Ying</creatorcontrib><creatorcontrib>Tan, Wei</creatorcontrib><creatorcontrib>Jiang, Zhengxuan</creatorcontrib><title>IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>The interleukin-23 receptor (IL-23R) has been shown to be associated with ankylosing spondylitis (AS) in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population.
Three single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) assay.
The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively). On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively). In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls.
In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS.</description><subject>Adult</subject><subject>Alleles</subject><subject>Ankylosing spondylitis</subject><subject>Asian Continental Ancestry Group</subject><subject>Biology</subject><subject>Biotechnology industry</subject><subject>Cytokines</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Enzymes</subject><subject>Female</subject><subject>Gene frequency</subject><subject>Gene Frequency - genetics</subject><subject>Genes</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA-B27 Antigen - genetics</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Interleukin 23</subject><subject>Male</subject><subject>Medicine</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Polymerase chain reaction</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Population</subject><subject>Population studies</subject><subject>Receptors, Interleukin - genetics</subject><subject>Restriction fragment length polymorphism</subject><subject>Rheumatoid arthritis</subject><subject>Single-nucleotide polymorphism</subject><subject>Spondylitis</subject><subject>Spondylitis, Ankylosing - genetics</subject><subject>Studies</subject><subject>Uveitis</subject><subject>Uveitis - genetics</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNptUk2P0zAQjRCIXRb-AQJLXLi0OB7biS9IqAK2UiUkBGfLTcatS2oH21nUf0-yza52ESdbfh_zZjxF8bqkyxKq8sMhDNGbbtkHj0tKZSWoeFJclgrYQjIKTx_cL4oXKR0oFVBL-by4YFBzWrHqsujXGwbfyQ49kiZ4izGRNKQG--y2rnP5RHIgxv86dSE5vyNprNeeRsClSdCEo8vGZ_LH5T0ZbvAWcJ4Ycm08We2dx4SkD_3QmeyCf1k8s6ZL-Go-r4qfXz7_WF0vNt--rlefNotGMJkXilmUqq0lKFujLGltjaqFRcNa29bbRgBnNTCmGGO04RJsKSsqLHBOhWjhqnh79u3H4HoeVtLj6BgIWlMYGeszow3moPvojiaedDBO3z6EuNMmZtd0qCkoLKGFqkHkKJSprNxy2JaGCyOMGr0-ztWG7RHbBn2Opntk-hjxbq934UaDVJJKMRq8nw1i-D1gyvroxl_oOuMxDFNupQTlwCbqu3-o_--On1lNDClFtPdhSjrxyjuVnhZIzws0yt48bORedLcx8BeyAcUM</recordid><startdate>20130628</startdate><enddate>20130628</enddate><creator>Dong, Hongtao</creator><creator>Li, Qiuming</creator><creator>Zhang, Ying</creator><creator>Tan, Wei</creator><creator>Jiang, Zhengxuan</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</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>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20130628</creationdate><title>IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population</title><author>Dong, Hongtao ; Li, Qiuming ; Zhang, Ying ; Tan, Wei ; Jiang, Zhengxuan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c526t-92fe69d8639f8e6108fa985fea2dfd8bc5342832292220c463f16705f344055d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Ankylosing spondylitis</topic><topic>Asian Continental Ancestry Group</topic><topic>Biology</topic><topic>Biotechnology industry</topic><topic>Cytokines</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Enzymes</topic><topic>Female</topic><topic>Gene frequency</topic><topic>Gene Frequency - genetics</topic><topic>Genes</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Histocompatibility antigen HLA</topic><topic>HLA-B27 Antigen - genetics</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Interleukin 23</topic><topic>Male</topic><topic>Medicine</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Polymerase chain reaction</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Population</topic><topic>Population studies</topic><topic>Receptors, Interleukin - genetics</topic><topic>Restriction fragment length polymorphism</topic><topic>Rheumatoid arthritis</topic><topic>Single-nucleotide polymorphism</topic><topic>Spondylitis</topic><topic>Spondylitis, Ankylosing - genetics</topic><topic>Studies</topic><topic>Uveitis</topic><topic>Uveitis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dong, Hongtao</creatorcontrib><creatorcontrib>Li, Qiuming</creatorcontrib><creatorcontrib>Zhang, Ying</creatorcontrib><creatorcontrib>Tan, Wei</creatorcontrib><creatorcontrib>Jiang, Zhengxuan</creatorcontrib><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>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology 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>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dong, Hongtao</au><au>Li, Qiuming</au><au>Zhang, Ying</au><au>Tan, Wei</au><au>Jiang, Zhengxuan</au><au>Rosenbaum, James T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2013-06-28</date><risdate>2013</risdate><volume>8</volume><issue>6</issue><spage>e67505</spage><epage>e67505</epage><pages>e67505-e67505</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>The interleukin-23 receptor (IL-23R) has been shown to be associated with ankylosing spondylitis (AS) in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population.
Three single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) assay.
The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively). On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively). In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls.
In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>23840727</pmid><doi>10.1371/journal.pone.0067505</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Alleles Ankylosing spondylitis Asian Continental Ancestry Group Biology Biotechnology industry Cytokines Deoxyribonucleic acid DNA Enzymes Female Gene frequency Gene Frequency - genetics Genes Genetic Predisposition to Disease - genetics Genomes Haplotypes Histocompatibility antigen HLA HLA-B27 Antigen - genetics Hospitals Humans Interleukin 23 Male Medicine Pathogenesis Patients Polymerase chain reaction Polymorphism Polymorphism, Single Nucleotide - genetics Population Population studies Receptors, Interleukin - genetics Restriction fragment length polymorphism Rheumatoid arthritis Single-nucleotide polymorphism Spondylitis Spondylitis, Ankylosing - genetics Studies Uveitis Uveitis - genetics |
| title | IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population |
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