IL1 and TNF gene polymorphisms in patients with juvenile idiopathic arthritis treated with TNF inhibitors
Objective: To investigate the genetic contribution of cytokine gene polymorphisms (interleukin 1 (IL1) and tumour necrosis factor α (TNFα)) on disease phenotype and on response to TNF-blocking agents in a population of patients with juvenile idiopathic arthritis (JIA). Methods: A cohort of 107 conse...
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| Veröffentlicht in: | Annals of the rheumatic diseases 2007-07, Vol.66 (7), p.900-904 |
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| creator | Cimaz, Rolando Cazalis, Marie-Angélique Reynaud, Charlotte Gerloni, Valeria Zulian, Francesco Biggioggero, Martina Martini, Giorgia Pontikaki, Irene Fantini, Flavio Mougin, Bruno Miossec, Pierre |
| description | Objective: To investigate the genetic contribution of cytokine gene polymorphisms (interleukin 1 (IL1) and tumour necrosis factor α (TNFα)) on disease phenotype and on response to TNF-blocking agents in a population of patients with juvenile idiopathic arthritis (JIA). Methods: A cohort of 107 consecutive patients with JIA who were receiving treatment with anti-TNF agents was enrolled in this study. Analysis of genetic polymorphisms for IL1B +3954, IL1RA +2018, TNFα −238 and TNFα −308 was performed by enzyme-linked oligo sorbent assay, and compared with those obtained from 630 healthy Caucasians and 263 adult patients with rheumatoid arthritis. Relevant demographic, clinical and laboratory data were collected from clinical charts and entered into a customised database, and χ2 analysis was performed to compare cytokine polymorphisms with disease type according to the International League of Associations for Rheumatology criteria, presence of uveitis, rheumatoid factor and anti-nuclear antibody positivity, erosive disease, frequency of adverse effects to anti-TNF and clinical response after 3 months. Results: The T/T genotype of the IL1B +3954 polymorphism was absent in patients with JIA and present in 5% of controls (p = 0.015). No significant correlation was found between the studied polymorphisms and clinical or laboratory variables considered. Clinical response to TNF inhibitors at 3 months was not associated with the genetic polymorphisms considered. Conclusion: In our cohort, the absence of the rare IL1B +3954 gene polymorphism was associated with JIA, but without specificity to particular disease phenotypes. The TNF and IL1 gene polymorphism studied did not seem to be associated with response to anti-TNF treatment. |
| doi_str_mv | 10.1136/ard.2006.067454 |
| format | Article |
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Methods: A cohort of 107 consecutive patients with JIA who were receiving treatment with anti-TNF agents was enrolled in this study. Analysis of genetic polymorphisms for IL1B +3954, IL1RA +2018, TNFα −238 and TNFα −308 was performed by enzyme-linked oligo sorbent assay, and compared with those obtained from 630 healthy Caucasians and 263 adult patients with rheumatoid arthritis. Relevant demographic, clinical and laboratory data were collected from clinical charts and entered into a customised database, and χ2 analysis was performed to compare cytokine polymorphisms with disease type according to the International League of Associations for Rheumatology criteria, presence of uveitis, rheumatoid factor and anti-nuclear antibody positivity, erosive disease, frequency of adverse effects to anti-TNF and clinical response after 3 months. Results: The T/T genotype of the IL1B +3954 polymorphism was absent in patients with JIA and present in 5% of controls (p = 0.015). No significant correlation was found between the studied polymorphisms and clinical or laboratory variables considered. Clinical response to TNF inhibitors at 3 months was not associated with the genetic polymorphisms considered. Conclusion: In our cohort, the absence of the rare IL1B +3954 gene polymorphism was associated with JIA, but without specificity to particular disease phenotypes. The TNF and IL1 gene polymorphism studied did not seem to be associated with response to anti-TNF treatment.</description><identifier>ISSN: 0003-4967</identifier><identifier>EISSN: 1468-2060</identifier><identifier>DOI: 10.1136/ard.2006.067454</identifier><identifier>PMID: 17324969</identifier><identifier>CODEN: ARDIAO</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and European League Against Rheumatism</publisher><subject>Adolescent ; Adult ; Age ; Antirheumatic Agents - therapeutic use ; Arthritis, Juvenile - drug therapy ; Arthritis, Juvenile - genetics ; Biological and medical sciences ; Biomedical research ; Child ; Child, Preschool ; Cohort Studies ; Cytokines ; Deoxyribonucleic acid ; Diseases of the osteoarticular system ; DNA ; Extended Report ; Female ; Genes ; Genotype & phenotype ; Haplotypes ; Humans ; ILAR ; Inflammatory joint diseases ; interleukin ; Interleukin-1 - genetics ; International League of Associations for Rheumatology ; JIA ; juvenile idiopathic arthritis ; Laboratories ; Male ; Medical sciences ; Ophthalmology ; Patients ; Phenotype ; Polymorphism ; Polymorphism, Single Nucleotide - genetics ; rheumatoid arthritis ; Rheumatology ; single nucleotide polymorphism ; SNP ; Studies ; TNF inhibitors ; TNFα ; Tumor Necrosis Factor-alpha - antagonists & inhibitors ; Tumor Necrosis Factor-alpha - genetics ; tumour necrosis factor α ; Uvea diseases</subject><ispartof>Annals of the rheumatic diseases, 2007-07, Vol.66 (7), p.900-904</ispartof><rights>Copyright 2007 by Annals of the Rheumatic Diseases</rights><rights>2007 INIST-CNRS</rights><rights>Copyright: 2007 Copyright 2007 by Annals of the Rheumatic Diseases</rights><rights>Copyright © 2007 BMJ Publishing Group and European League Against Rheumatism</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b553t-2643faf45de5399b97725b2fd49421d04cfa2c4042037dcf98380cd9a69320ac3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttp://ard.bmj.com/content/66/7/900.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttp://ard.bmj.com/content/66/7/900.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,230,315,728,781,785,886,3197,23575,27928,27929,53795,53797,77604,77635</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18825258$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17324969$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cimaz, Rolando</creatorcontrib><creatorcontrib>Cazalis, Marie-Angélique</creatorcontrib><creatorcontrib>Reynaud, Charlotte</creatorcontrib><creatorcontrib>Gerloni, Valeria</creatorcontrib><creatorcontrib>Zulian, Francesco</creatorcontrib><creatorcontrib>Biggioggero, Martina</creatorcontrib><creatorcontrib>Martini, Giorgia</creatorcontrib><creatorcontrib>Pontikaki, Irene</creatorcontrib><creatorcontrib>Fantini, Flavio</creatorcontrib><creatorcontrib>Mougin, Bruno</creatorcontrib><creatorcontrib>Miossec, Pierre</creatorcontrib><title>IL1 and TNF gene polymorphisms in patients with juvenile idiopathic arthritis treated with TNF inhibitors</title><title>Annals of the rheumatic diseases</title><addtitle>Ann Rheum Dis</addtitle><description>Objective: To investigate the genetic contribution of cytokine gene polymorphisms (interleukin 1 (IL1) and tumour necrosis factor α (TNFα)) on disease phenotype and on response to TNF-blocking agents in a population of patients with juvenile idiopathic arthritis (JIA). Methods: A cohort of 107 consecutive patients with JIA who were receiving treatment with anti-TNF agents was enrolled in this study. Analysis of genetic polymorphisms for IL1B +3954, IL1RA +2018, TNFα −238 and TNFα −308 was performed by enzyme-linked oligo sorbent assay, and compared with those obtained from 630 healthy Caucasians and 263 adult patients with rheumatoid arthritis. Relevant demographic, clinical and laboratory data were collected from clinical charts and entered into a customised database, and χ2 analysis was performed to compare cytokine polymorphisms with disease type according to the International League of Associations for Rheumatology criteria, presence of uveitis, rheumatoid factor and anti-nuclear antibody positivity, erosive disease, frequency of adverse effects to anti-TNF and clinical response after 3 months. Results: The T/T genotype of the IL1B +3954 polymorphism was absent in patients with JIA and present in 5% of controls (p = 0.015). No significant correlation was found between the studied polymorphisms and clinical or laboratory variables considered. Clinical response to TNF inhibitors at 3 months was not associated with the genetic polymorphisms considered. Conclusion: In our cohort, the absence of the rare IL1B +3954 gene polymorphism was associated with JIA, but without specificity to particular disease phenotypes. The TNF and IL1 gene polymorphism studied did not seem to be associated with response to anti-TNF treatment.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Antirheumatic Agents - therapeutic use</subject><subject>Arthritis, Juvenile - drug therapy</subject><subject>Arthritis, Juvenile - genetics</subject><subject>Biological and medical sciences</subject><subject>Biomedical research</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cohort Studies</subject><subject>Cytokines</subject><subject>Deoxyribonucleic acid</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA</subject><subject>Extended Report</subject><subject>Female</subject><subject>Genes</subject><subject>Genotype & phenotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>ILAR</subject><subject>Inflammatory joint diseases</subject><subject>interleukin</subject><subject>Interleukin-1 - genetics</subject><subject>International League of Associations for Rheumatology</subject><subject>JIA</subject><subject>juvenile idiopathic arthritis</subject><subject>Laboratories</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Ophthalmology</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>rheumatoid arthritis</subject><subject>Rheumatology</subject><subject>single nucleotide polymorphism</subject><subject>SNP</subject><subject>Studies</subject><subject>TNF inhibitors</subject><subject>TNFα</subject><subject>Tumor Necrosis Factor-alpha - antagonists & inhibitors</subject><subject>Tumor Necrosis Factor-alpha - genetics</subject><subject>tumour necrosis factor α</subject><subject>Uvea diseases</subject><issn>0003-4967</issn><issn>1468-2060</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</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><recordid>eNqF0Utv1DAUBeAIgehQWLNDlhBdIGXq92ODhKYMVBoVFqVby3GcxkNetT2F_ns8ZNQCm64i534-uskpitcILhEi_NSEeokh5EvIBWX0SbFAlMsSQw6fFgsIISmp4uKoeBHjNh-hRPJ5cYQEwfm9WhT-fIOAGWpwebEG125wYBq7u34MU-tjH4EfwGSSd0OK4KdPLdjubt3gOwd87cc8ar0FJqQ2-OQjSMGZ5OqZ7iP90PrKpzHEl8WzxnTRvTo8j4vv60-Xqy_l5uvn89XHTVkxRlKJOSWNaSirHSNKVUoIzCrc1FRRjGpIbWOwpZBiSERtGyWJhLZWhiuCobHkuPgw5067qne1zasH0-kp-N6EOz0ar_-dDL7V1-OtRooxBHEOODkEhPFm52LSvY_WdZ0Z3LiLWkCOMJf8UYiUZFJCkeHb_-B23IUh_wWNhBCSYfgn7nRWNowxBtfc74yg3retc9t637ae28433vz9qQ_-UG8G7w7ARGu6JpjB-vjgpMQMM5ldOTsfk_t1Pzfhh-aCCKYvrlaaSfbt6my11uvs38--6rePbvkbUcXPUA</recordid><startdate>20070701</startdate><enddate>20070701</enddate><creator>Cimaz, Rolando</creator><creator>Cazalis, Marie-Angélique</creator><creator>Reynaud, Charlotte</creator><creator>Gerloni, Valeria</creator><creator>Zulian, Francesco</creator><creator>Biggioggero, Martina</creator><creator>Martini, Giorgia</creator><creator>Pontikaki, Irene</creator><creator>Fantini, Flavio</creator><creator>Mougin, Bruno</creator><creator>Miossec, Pierre</creator><general>BMJ Publishing Group Ltd and European League Against Rheumatism</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</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>7QP</scope><scope>7T5</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20070701</creationdate><title>IL1 and TNF gene polymorphisms in patients with juvenile idiopathic arthritis treated with TNF inhibitors</title><author>Cimaz, Rolando ; Cazalis, Marie-Angélique ; Reynaud, Charlotte ; Gerloni, Valeria ; Zulian, Francesco ; Biggioggero, Martina ; Martini, Giorgia ; Pontikaki, Irene ; Fantini, Flavio ; Mougin, Bruno ; Miossec, Pierre</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b553t-2643faf45de5399b97725b2fd49421d04cfa2c4042037dcf98380cd9a69320ac3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Antirheumatic Agents - therapeutic use</topic><topic>Arthritis, Juvenile - drug therapy</topic><topic>Arthritis, Juvenile - genetics</topic><topic>Biological and medical sciences</topic><topic>Biomedical research</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cohort Studies</topic><topic>Cytokines</topic><topic>Deoxyribonucleic acid</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA</topic><topic>Extended Report</topic><topic>Female</topic><topic>Genes</topic><topic>Genotype & phenotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>ILAR</topic><topic>Inflammatory joint diseases</topic><topic>interleukin</topic><topic>Interleukin-1 - genetics</topic><topic>International League of Associations for Rheumatology</topic><topic>JIA</topic><topic>juvenile idiopathic arthritis</topic><topic>Laboratories</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Ophthalmology</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>rheumatoid arthritis</topic><topic>Rheumatology</topic><topic>single nucleotide polymorphism</topic><topic>SNP</topic><topic>Studies</topic><topic>TNF inhibitors</topic><topic>TNFα</topic><topic>Tumor Necrosis Factor-alpha - antagonists & inhibitors</topic><topic>Tumor Necrosis Factor-alpha - genetics</topic><topic>tumour necrosis factor α</topic><topic>Uvea diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cimaz, Rolando</creatorcontrib><creatorcontrib>Cazalis, Marie-Angélique</creatorcontrib><creatorcontrib>Reynaud, Charlotte</creatorcontrib><creatorcontrib>Gerloni, Valeria</creatorcontrib><creatorcontrib>Zulian, Francesco</creatorcontrib><creatorcontrib>Biggioggero, Martina</creatorcontrib><creatorcontrib>Martini, Giorgia</creatorcontrib><creatorcontrib>Pontikaki, Irene</creatorcontrib><creatorcontrib>Fantini, Flavio</creatorcontrib><creatorcontrib>Mougin, Bruno</creatorcontrib><creatorcontrib>Miossec, Pierre</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>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Annals of the rheumatic diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cimaz, Rolando</au><au>Cazalis, Marie-Angélique</au><au>Reynaud, Charlotte</au><au>Gerloni, Valeria</au><au>Zulian, Francesco</au><au>Biggioggero, Martina</au><au>Martini, Giorgia</au><au>Pontikaki, Irene</au><au>Fantini, Flavio</au><au>Mougin, Bruno</au><au>Miossec, Pierre</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>IL1 and TNF gene polymorphisms in patients with juvenile idiopathic arthritis treated with TNF inhibitors</atitle><jtitle>Annals of the rheumatic diseases</jtitle><addtitle>Ann Rheum Dis</addtitle><date>2007-07-01</date><risdate>2007</risdate><volume>66</volume><issue>7</issue><spage>900</spage><epage>904</epage><pages>900-904</pages><issn>0003-4967</issn><eissn>1468-2060</eissn><coden>ARDIAO</coden><abstract>Objective: To investigate the genetic contribution of cytokine gene polymorphisms (interleukin 1 (IL1) and tumour necrosis factor α (TNFα)) on disease phenotype and on response to TNF-blocking agents in a population of patients with juvenile idiopathic arthritis (JIA). Methods: A cohort of 107 consecutive patients with JIA who were receiving treatment with anti-TNF agents was enrolled in this study. Analysis of genetic polymorphisms for IL1B +3954, IL1RA +2018, TNFα −238 and TNFα −308 was performed by enzyme-linked oligo sorbent assay, and compared with those obtained from 630 healthy Caucasians and 263 adult patients with rheumatoid arthritis. Relevant demographic, clinical and laboratory data were collected from clinical charts and entered into a customised database, and χ2 analysis was performed to compare cytokine polymorphisms with disease type according to the International League of Associations for Rheumatology criteria, presence of uveitis, rheumatoid factor and anti-nuclear antibody positivity, erosive disease, frequency of adverse effects to anti-TNF and clinical response after 3 months. Results: The T/T genotype of the IL1B +3954 polymorphism was absent in patients with JIA and present in 5% of controls (p = 0.015). No significant correlation was found between the studied polymorphisms and clinical or laboratory variables considered. Clinical response to TNF inhibitors at 3 months was not associated with the genetic polymorphisms considered. Conclusion: In our cohort, the absence of the rare IL1B +3954 gene polymorphism was associated with JIA, but without specificity to particular disease phenotypes. The TNF and IL1 gene polymorphism studied did not seem to be associated with response to anti-TNF treatment.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and European League Against Rheumatism</pub><pmid>17324969</pmid><doi>10.1136/ard.2006.067454</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Age Antirheumatic Agents - therapeutic use Arthritis, Juvenile - drug therapy Arthritis, Juvenile - genetics Biological and medical sciences Biomedical research Child Child, Preschool Cohort Studies Cytokines Deoxyribonucleic acid Diseases of the osteoarticular system DNA Extended Report Female Genes Genotype & phenotype Haplotypes Humans ILAR Inflammatory joint diseases interleukin Interleukin-1 - genetics International League of Associations for Rheumatology JIA juvenile idiopathic arthritis Laboratories Male Medical sciences Ophthalmology Patients Phenotype Polymorphism Polymorphism, Single Nucleotide - genetics rheumatoid arthritis Rheumatology single nucleotide polymorphism SNP Studies TNF inhibitors TNFα Tumor Necrosis Factor-alpha - antagonists & inhibitors Tumor Necrosis Factor-alpha - genetics tumour necrosis factor α Uvea diseases |
| title | IL1 and TNF gene polymorphisms in patients with juvenile idiopathic arthritis treated with TNF inhibitors |
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