PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic arthritis
Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240...
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| Veröffentlicht in: | British journal of biomedical science 2020-07, Vol.77 (3), p.123-128 |
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| creator | Ali, MA Abdelaziz, A Ali, M Abonar, A Hanafy, M Hussein, H Shabana, H Abd El-Hmid, R Kaddafy, S |
| description | Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240340, rs10204525 and rs231775 in PADI4, PDCD1 and CTLA4 respectively, and juvenile idiopathic arthritis (JIA), the commonest type of childhood arthritis, are unclear. We aimed to determine whether any of these SNPs are associated with JIA, and to clinical indices disease activity score (JADAS 71) and functional disability score (CHAQ).
We genotyped the three SNPs in 150 children with polyarticular JIA and 160 healthy children, recording standard health questionnaires, clinical features and laboratory markers.
The TT genotype of PADI4 rs2240340 (aOR/95%CI 2.64: 1.31-5.30, P = 0.006) and CT genotype of PDCD1 rs10204525 (aOR/95%CI 4.99: 2.98-8.36, P |
| doi_str_mv | 10.1080/09674845.2020.1730626 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmed_primary_32163016</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2376735701</sourcerecordid><originalsourceid>FETCH-LOGICAL-c394t-94948bf57c76bdf7fb63140a2e3568d32df4c30b1afc189d6d16151ce3c07c8d3</originalsourceid><addsrcrecordid>eNp9kctq3DAYhUVJaaZJH6HBkE0CdaK77F2GmV4CA80iXQtZl44G23IkO2GgD1-5M-mii64ER99_9KMPgI8I3iBYwVtYc0Erym4wxDkSBHLM34AFpoKWsKr5CVjMTDlDp-B9SjsIUY0FfwdOCUacQMQX4NfDcn1Pi6uYMKaQUHj9qXhYr9ZojlCupgyznKneFKvHzTKjmCAh2HXx0_a2GEK770Ictj516Q81JyqOXk-tisVuera9b23hjQ-DGrdeF_l2G_3o0zl461Sb7IfjeQZ-fPn8uPpWbr5_vV8tN6UmNR3Lmta0ahwTWvDGOOEaThCFClvCeGUINo5qAhuknEZVbbhBHDGkLdFQ6AycgatD7xDD02TTKDuftG1b1dswJYmJ4IIwAVFGL_9Bd2GKfd5OYopR_jdGWKbYgdIxpBStk0P0nYp7iaCc9chXPXLWI4968tzFsX1qOmv-Tr36yMDdAfC9C7FTLyG2Ro5q34boouq1T5L8_43f2yCY1A</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2421216535</pqid></control><display><type>article</type><title>PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic arthritis</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Ali, MA ; Abdelaziz, A ; Ali, M ; Abonar, A ; Hanafy, M ; Hussein, H ; Shabana, H ; Abd El-Hmid, R ; Kaddafy, S</creator><creatorcontrib>Ali, MA ; Abdelaziz, A ; Ali, M ; Abonar, A ; Hanafy, M ; Hussein, H ; Shabana, H ; Abd El-Hmid, R ; Kaddafy, S</creatorcontrib><description>Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240340, rs10204525 and rs231775 in PADI4, PDCD1 and CTLA4 respectively, and juvenile idiopathic arthritis (JIA), the commonest type of childhood arthritis, are unclear. We aimed to determine whether any of these SNPs are associated with JIA, and to clinical indices disease activity score (JADAS 71) and functional disability score (CHAQ).
We genotyped the three SNPs in 150 children with polyarticular JIA and 160 healthy children, recording standard health questionnaires, clinical features and laboratory markers.
The TT genotype of PADI4 rs2240340 (aOR/95%CI 2.64: 1.31-5.30, P = 0.006) and CT genotype of PDCD1 rs10204525 (aOR/95%CI 4.99: 2.98-8.36, P < 0.0001) were associated with JIA. The AG+GG genotype of CTLA4 rs231175 was modestly linked to disease activity (aOR/95%CI 2.44 (1.19-5.04), p = 0.015). PADI4 rs2240340 was linked to CHAQ score (genotypes p = 0.013, alleles p = 0.006), whilst PDCD1 rs10204525 was linked to anti-CCP antibodies (genotypes p = 0.004), RF (genotypes p = 0.01), and the CHAQ score (genotypes p = 0.005, alleles p = 0.013).
There are various roles for these SNPs in PADI4, CTLA4 and PDCD1 in the diagnosis and, potentially, in the management of JIA.</description><identifier>ISSN: 0967-4845</identifier><identifier>EISSN: 2474-0896</identifier><identifier>DOI: 10.1080/09674845.2020.1730626</identifier><identifier>PMID: 32163016</identifier><language>eng</language><publisher>England: Taylor & Francis</publisher><subject>Alleles ; Apoptosis ; Arginine ; Arginine deiminase ; Arthritis ; Arthritis, Juvenile - genetics ; Arthritis, Rheumatoid - genetics ; Case-Control Studies ; Cell death ; Child ; Children ; CTLA-4 Antigen - genetics ; CTLA-4 protein ; CTLA4 rs231775 ; Cytotoxicity ; Female ; Gene Frequency - genetics ; Genetic Predisposition to Disease - genetics ; Genotype ; Genotype & phenotype ; Health risk assessment ; Humans ; JIA ; Lymphocytes T ; Male ; PADI4 rs2240340 ; PD-1 protein ; PDCD1 rs10204525 ; polymorphism ; Polymorphism, Single Nucleotide - genetics ; Programmed Cell Death 1 Receptor - genetics ; Protein-arginine deiminase ; Protein-Arginine Deiminase Type 4 - genetics ; Rheumatoid arthritis ; RT-PCR ; Single-nucleotide polymorphism</subject><ispartof>British journal of biomedical science, 2020-07, Vol.77 (3), p.123-128</ispartof><rights>2020 British Journal of Biomedical Science 2020</rights><rights>2020 British Journal of Biomedical Science</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c394t-94948bf57c76bdf7fb63140a2e3568d32df4c30b1afc189d6d16151ce3c07c8d3</citedby><cites>FETCH-LOGICAL-c394t-94948bf57c76bdf7fb63140a2e3568d32df4c30b1afc189d6d16151ce3c07c8d3</cites><orcidid>0000-0002-4007-7868</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32163016$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ali, MA</creatorcontrib><creatorcontrib>Abdelaziz, A</creatorcontrib><creatorcontrib>Ali, M</creatorcontrib><creatorcontrib>Abonar, A</creatorcontrib><creatorcontrib>Hanafy, M</creatorcontrib><creatorcontrib>Hussein, H</creatorcontrib><creatorcontrib>Shabana, H</creatorcontrib><creatorcontrib>Abd El-Hmid, R</creatorcontrib><creatorcontrib>Kaddafy, S</creatorcontrib><title>PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic arthritis</title><title>British journal of biomedical science</title><addtitle>Br J Biomed Sci</addtitle><description>Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240340, rs10204525 and rs231775 in PADI4, PDCD1 and CTLA4 respectively, and juvenile idiopathic arthritis (JIA), the commonest type of childhood arthritis, are unclear. We aimed to determine whether any of these SNPs are associated with JIA, and to clinical indices disease activity score (JADAS 71) and functional disability score (CHAQ).
We genotyped the three SNPs in 150 children with polyarticular JIA and 160 healthy children, recording standard health questionnaires, clinical features and laboratory markers.
The TT genotype of PADI4 rs2240340 (aOR/95%CI 2.64: 1.31-5.30, P = 0.006) and CT genotype of PDCD1 rs10204525 (aOR/95%CI 4.99: 2.98-8.36, P < 0.0001) were associated with JIA. The AG+GG genotype of CTLA4 rs231175 was modestly linked to disease activity (aOR/95%CI 2.44 (1.19-5.04), p = 0.015). PADI4 rs2240340 was linked to CHAQ score (genotypes p = 0.013, alleles p = 0.006), whilst PDCD1 rs10204525 was linked to anti-CCP antibodies (genotypes p = 0.004), RF (genotypes p = 0.01), and the CHAQ score (genotypes p = 0.005, alleles p = 0.013).
There are various roles for these SNPs in PADI4, CTLA4 and PDCD1 in the diagnosis and, potentially, in the management of JIA.</description><subject>Alleles</subject><subject>Apoptosis</subject><subject>Arginine</subject><subject>Arginine deiminase</subject><subject>Arthritis</subject><subject>Arthritis, Juvenile - genetics</subject><subject>Arthritis, Rheumatoid - genetics</subject><subject>Case-Control Studies</subject><subject>Cell death</subject><subject>Child</subject><subject>Children</subject><subject>CTLA-4 Antigen - genetics</subject><subject>CTLA-4 protein</subject><subject>CTLA4 rs231775</subject><subject>Cytotoxicity</subject><subject>Female</subject><subject>Gene Frequency - genetics</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Health risk assessment</subject><subject>Humans</subject><subject>JIA</subject><subject>Lymphocytes T</subject><subject>Male</subject><subject>PADI4 rs2240340</subject><subject>PD-1 protein</subject><subject>PDCD1 rs10204525</subject><subject>polymorphism</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Programmed Cell Death 1 Receptor - genetics</subject><subject>Protein-arginine deiminase</subject><subject>Protein-Arginine Deiminase Type 4 - genetics</subject><subject>Rheumatoid arthritis</subject><subject>RT-PCR</subject><subject>Single-nucleotide polymorphism</subject><issn>0967-4845</issn><issn>2474-0896</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kctq3DAYhUVJaaZJH6HBkE0CdaK77F2GmV4CA80iXQtZl44G23IkO2GgD1-5M-mii64ER99_9KMPgI8I3iBYwVtYc0Erym4wxDkSBHLM34AFpoKWsKr5CVjMTDlDp-B9SjsIUY0FfwdOCUacQMQX4NfDcn1Pi6uYMKaQUHj9qXhYr9ZojlCupgyznKneFKvHzTKjmCAh2HXx0_a2GEK770Ictj516Q81JyqOXk-tisVuera9b23hjQ-DGrdeF_l2G_3o0zl461Sb7IfjeQZ-fPn8uPpWbr5_vV8tN6UmNR3Lmta0ahwTWvDGOOEaThCFClvCeGUINo5qAhuknEZVbbhBHDGkLdFQ6AycgatD7xDD02TTKDuftG1b1dswJYmJ4IIwAVFGL_9Bd2GKfd5OYopR_jdGWKbYgdIxpBStk0P0nYp7iaCc9chXPXLWI4968tzFsX1qOmv-Tr36yMDdAfC9C7FTLyG2Ro5q34boouq1T5L8_43f2yCY1A</recordid><startdate>20200702</startdate><enddate>20200702</enddate><creator>Ali, MA</creator><creator>Abdelaziz, A</creator><creator>Ali, M</creator><creator>Abonar, A</creator><creator>Hanafy, M</creator><creator>Hussein, H</creator><creator>Shabana, H</creator><creator>Abd El-Hmid, R</creator><creator>Kaddafy, S</creator><general>Taylor & Francis</general><general>Taylor & Francis Ltd</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>4T-</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-4007-7868</orcidid></search><sort><creationdate>20200702</creationdate><title>PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic arthritis</title><author>Ali, MA ; Abdelaziz, A ; Ali, M ; Abonar, A ; Hanafy, M ; Hussein, H ; Shabana, H ; Abd El-Hmid, R ; Kaddafy, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c394t-94948bf57c76bdf7fb63140a2e3568d32df4c30b1afc189d6d16151ce3c07c8d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Alleles</topic><topic>Apoptosis</topic><topic>Arginine</topic><topic>Arginine deiminase</topic><topic>Arthritis</topic><topic>Arthritis, Juvenile - genetics</topic><topic>Arthritis, Rheumatoid - genetics</topic><topic>Case-Control Studies</topic><topic>Cell death</topic><topic>Child</topic><topic>Children</topic><topic>CTLA-4 Antigen - genetics</topic><topic>CTLA-4 protein</topic><topic>CTLA4 rs231775</topic><topic>Cytotoxicity</topic><topic>Female</topic><topic>Gene Frequency - genetics</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Health risk assessment</topic><topic>Humans</topic><topic>JIA</topic><topic>Lymphocytes T</topic><topic>Male</topic><topic>PADI4 rs2240340</topic><topic>PD-1 protein</topic><topic>PDCD1 rs10204525</topic><topic>polymorphism</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Programmed Cell Death 1 Receptor - genetics</topic><topic>Protein-arginine deiminase</topic><topic>Protein-Arginine Deiminase Type 4 - genetics</topic><topic>Rheumatoid arthritis</topic><topic>RT-PCR</topic><topic>Single-nucleotide polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ali, MA</creatorcontrib><creatorcontrib>Abdelaziz, A</creatorcontrib><creatorcontrib>Ali, M</creatorcontrib><creatorcontrib>Abonar, A</creatorcontrib><creatorcontrib>Hanafy, M</creatorcontrib><creatorcontrib>Hussein, H</creatorcontrib><creatorcontrib>Shabana, H</creatorcontrib><creatorcontrib>Abd El-Hmid, R</creatorcontrib><creatorcontrib>Kaddafy, S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Docstoc</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>British journal of biomedical science</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ali, MA</au><au>Abdelaziz, A</au><au>Ali, M</au><au>Abonar, A</au><au>Hanafy, M</au><au>Hussein, H</au><au>Shabana, H</au><au>Abd El-Hmid, R</au><au>Kaddafy, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic arthritis</atitle><jtitle>British journal of biomedical science</jtitle><addtitle>Br J Biomed Sci</addtitle><date>2020-07-02</date><risdate>2020</risdate><volume>77</volume><issue>3</issue><spage>123</spage><epage>128</epage><pages>123-128</pages><issn>0967-4845</issn><eissn>2474-0896</eissn><abstract>Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240340, rs10204525 and rs231775 in PADI4, PDCD1 and CTLA4 respectively, and juvenile idiopathic arthritis (JIA), the commonest type of childhood arthritis, are unclear. We aimed to determine whether any of these SNPs are associated with JIA, and to clinical indices disease activity score (JADAS 71) and functional disability score (CHAQ).
We genotyped the three SNPs in 150 children with polyarticular JIA and 160 healthy children, recording standard health questionnaires, clinical features and laboratory markers.
The TT genotype of PADI4 rs2240340 (aOR/95%CI 2.64: 1.31-5.30, P = 0.006) and CT genotype of PDCD1 rs10204525 (aOR/95%CI 4.99: 2.98-8.36, P < 0.0001) were associated with JIA. The AG+GG genotype of CTLA4 rs231175 was modestly linked to disease activity (aOR/95%CI 2.44 (1.19-5.04), p = 0.015). PADI4 rs2240340 was linked to CHAQ score (genotypes p = 0.013, alleles p = 0.006), whilst PDCD1 rs10204525 was linked to anti-CCP antibodies (genotypes p = 0.004), RF (genotypes p = 0.01), and the CHAQ score (genotypes p = 0.005, alleles p = 0.013).
There are various roles for these SNPs in PADI4, CTLA4 and PDCD1 in the diagnosis and, potentially, in the management of JIA.</abstract><cop>England</cop><pub>Taylor & Francis</pub><pmid>32163016</pmid><doi>10.1080/09674845.2020.1730626</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-4007-7868</orcidid></addata></record> |
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| ispartof | British journal of biomedical science, 2020-07, Vol.77 (3), p.123-128 |
| issn | 0967-4845 2474-0896 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Alleles Apoptosis Arginine Arginine deiminase Arthritis Arthritis, Juvenile - genetics Arthritis, Rheumatoid - genetics Case-Control Studies Cell death Child Children CTLA-4 Antigen - genetics CTLA-4 protein CTLA4 rs231775 Cytotoxicity Female Gene Frequency - genetics Genetic Predisposition to Disease - genetics Genotype Genotype & phenotype Health risk assessment Humans JIA Lymphocytes T Male PADI4 rs2240340 PD-1 protein PDCD1 rs10204525 polymorphism Polymorphism, Single Nucleotide - genetics Programmed Cell Death 1 Receptor - genetics Protein-arginine deiminase Protein-Arginine Deiminase Type 4 - genetics Rheumatoid arthritis RT-PCR Single-nucleotide polymorphism |
| title | PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic arthritis |
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