Association of ADAMTS12 polymorphisms with rheumatoid arthritis
a disintegrin and metalloproteinase (ADAM) with thrombospondin type 1 motif 12 (ADAMTS12) is a degradative enzyme that interacts with the degradable fragments of cartilage oligomeric matrix protein, which is a prominent non-collagenous matrix component in articular cartilage. ADAMTS12 has been obser...
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| Veröffentlicht in: | Molecular medicine reports 2012-07, Vol.6 (1), p.227-231 |
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| creator | Nah, Seong-Su Lee, Soojeong Joo, Jaesoon Kim, Hyung-Kee Sohn, Dong-Ryul Kwon, Jun-Tack Woo, Kee-Min Hong, Seung-Jae Kim, Hak-Jae |
| description | a disintegrin and metalloproteinase (ADAM) with thrombospondin type 1 motif 12 (ADAMTS12) is a degradative enzyme that interacts with the degradable fragments of cartilage oligomeric matrix protein, which is a prominent non-collagenous matrix component in articular cartilage. ADAMTS12 has been observed in the cartilage, synovial fluid and serum of arthritic patients, and may play an important role in the pathogenesis of arthritis. In the present study, we investigated whether genetic polymorphisms of ADAMTS12 are associated with rheumatoid arthritis (RA). To observe the association between ADAMTS12 and RA, we genotyped three single nucleotide polymorphisms (SNPs) (rs1364044, intron C/T; rs10461703, intron C/T; rs25754, missense Thr1495Ile) of ADAMTS12 using a direct sequencing method in 303 RA patients and 495 control subjects. Multiple logistic regression models were performed to analyze the genetic data. SNPStats and SNPAnalyzer Pro programs were used to estimate the odds ratios, 95% confidence intervals and p-values. Bonferroni's correction (pc) was conducted to obtain a defined result. Of the three SNPs, the genotype frequency of rs10461703 was associated with the development of RA (pc=0.0024 in the co-dominant model; pc=0.0009 in the dominant model; pc=0.0006 in the log-additive model). The allele frequency of rs10461703 also showed a significant difference between RA and controls (pc |
| doi_str_mv | 10.3892/mmr.2012.867 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1012207921</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1012207921</sourcerecordid><originalsourceid>FETCH-LOGICAL-c357t-27317518d0417ce832e50657d318724397f58bbea55188d10971c280fed4895d3</originalsourceid><addsrcrecordid>eNpdkM9LwzAYhoMobk5vnqXgxYObyZemSU5S5k-YeHCeQ9emNKNZatIi--_N2PQgfPB-h4eXlwehS4JnVEi4s9bPABOYiYwfoTHhkkwpxunx4Qcp-QidhbDGOGPA5CkaATDMCOdjdJ-H4EpT9MZtElcn-UP-tvwgkHSu3Vrnu8YEG5Jv0zeJb_Rgi96ZKil833jTm3COTuqiDfrikBP0-fS4nL9MF-_Pr_N8MS0p4_0UOCWcEVHhlPBSCwqaxTW8okRwSKnkNROrlS5YhERFsOSkBIFrXaVCsopO0M2-t_Pua9ChV9aEUrdtsdFuCIpEA4C5BBLR63_o2g1-E9cp4Bmjaba7CbrdU6V3IXhdq84bW_htrFI7sSqKVTuxKoqN-NWhdFhZXf3BvybpDwMicNw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2765346346</pqid></control><display><type>article</type><title>Association of ADAMTS12 polymorphisms with rheumatoid arthritis</title><source>Spandidos Publications Journals</source><source>MEDLINE</source><source>Alma/SFX Local Collection</source><source>EZB Electronic Journals Library</source><creator>Nah, Seong-Su ; Lee, Soojeong ; Joo, Jaesoon ; Kim, Hyung-Kee ; Sohn, Dong-Ryul ; Kwon, Jun-Tack ; Woo, Kee-Min ; Hong, Seung-Jae ; Kim, Hak-Jae</creator><creatorcontrib>Nah, Seong-Su ; Lee, Soojeong ; Joo, Jaesoon ; Kim, Hyung-Kee ; Sohn, Dong-Ryul ; Kwon, Jun-Tack ; Woo, Kee-Min ; Hong, Seung-Jae ; Kim, Hak-Jae</creatorcontrib><description>a disintegrin and metalloproteinase (ADAM) with thrombospondin type 1 motif 12 (ADAMTS12) is a degradative enzyme that interacts with the degradable fragments of cartilage oligomeric matrix protein, which is a prominent non-collagenous matrix component in articular cartilage. ADAMTS12 has been observed in the cartilage, synovial fluid and serum of arthritic patients, and may play an important role in the pathogenesis of arthritis. In the present study, we investigated whether genetic polymorphisms of ADAMTS12 are associated with rheumatoid arthritis (RA). To observe the association between ADAMTS12 and RA, we genotyped three single nucleotide polymorphisms (SNPs) (rs1364044, intron C/T; rs10461703, intron C/T; rs25754, missense Thr1495Ile) of ADAMTS12 using a direct sequencing method in 303 RA patients and 495 control subjects. Multiple logistic regression models were performed to analyze the genetic data. SNPStats and SNPAnalyzer Pro programs were used to estimate the odds ratios, 95% confidence intervals and p-values. Bonferroni's correction (pc) was conducted to obtain a defined result. Of the three SNPs, the genotype frequency of rs10461703 was associated with the development of RA (pc=0.0024 in the co-dominant model; pc=0.0009 in the dominant model; pc=0.0006 in the log-additive model). The allele frequency of rs10461703 also showed a significant difference between RA and controls (pc<0.0001). The C allele frequency of rs10461703 was lower in the RA group (36.6%) compared to the control group (45.7%), whereas the T allele frequency of rs10461703 in the RA group (63.4%) was higher compared to that in the control group (54.3%). The other two SNPs (rs1364044 and rs25754) were not associated with the development of RA. However, we did not find any association between the three tested SNPs and RA patients according to clinical features, including erythrocyte sedimentation rate, C-reactive protein level, rheumatoid factor (+ and -) and bone erosion (+ and -). Our results suggest that ADAMTS12 may be a susceptibility gene for RA development.</description><identifier>ISSN: 1791-2997</identifier><identifier>EISSN: 1791-3004</identifier><identifier>DOI: 10.3892/mmr.2012.867</identifier><identifier>PMID: 22505177</identifier><language>eng</language><publisher>Greece: Spandidos Publications UK Ltd</publisher><subject>ADAM protein ; ADAM Proteins - genetics ; ADAMTS Proteins ; Adult ; Alleles ; Arthritis, Rheumatoid - genetics ; Asian people ; C-reactive protein ; Cartilage ; Cartilage (articular) ; Cartilage oligomeric matrix protein ; Case-Control Studies ; Collagen ; Confidence intervals ; Enzymes ; Erythrocyte sedimentation rate ; Female ; Gene Frequency ; Gene polymorphism ; Genetic Predisposition to Disease ; Genotype ; Genotype & phenotype ; Humans ; Male ; Matrix protein ; Middle Aged ; Pathogenesis ; Patients ; Polymorphism, Single Nucleotide ; Population ; Proteins ; Regression analysis ; Rheumatoid arthritis ; Rheumatoid factor ; Single-nucleotide polymorphism ; Synovial fluid ; Thrombospondin</subject><ispartof>Molecular medicine reports, 2012-07, Vol.6 (1), p.227-231</ispartof><rights>Copyright Spandidos Publications UK Ltd. 2012</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-27317518d0417ce832e50657d318724397f58bbea55188d10971c280fed4895d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22505177$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nah, Seong-Su</creatorcontrib><creatorcontrib>Lee, Soojeong</creatorcontrib><creatorcontrib>Joo, Jaesoon</creatorcontrib><creatorcontrib>Kim, Hyung-Kee</creatorcontrib><creatorcontrib>Sohn, Dong-Ryul</creatorcontrib><creatorcontrib>Kwon, Jun-Tack</creatorcontrib><creatorcontrib>Woo, Kee-Min</creatorcontrib><creatorcontrib>Hong, Seung-Jae</creatorcontrib><creatorcontrib>Kim, Hak-Jae</creatorcontrib><title>Association of ADAMTS12 polymorphisms with rheumatoid arthritis</title><title>Molecular medicine reports</title><addtitle>Mol Med Rep</addtitle><description>a disintegrin and metalloproteinase (ADAM) with thrombospondin type 1 motif 12 (ADAMTS12) is a degradative enzyme that interacts with the degradable fragments of cartilage oligomeric matrix protein, which is a prominent non-collagenous matrix component in articular cartilage. ADAMTS12 has been observed in the cartilage, synovial fluid and serum of arthritic patients, and may play an important role in the pathogenesis of arthritis. In the present study, we investigated whether genetic polymorphisms of ADAMTS12 are associated with rheumatoid arthritis (RA). To observe the association between ADAMTS12 and RA, we genotyped three single nucleotide polymorphisms (SNPs) (rs1364044, intron C/T; rs10461703, intron C/T; rs25754, missense Thr1495Ile) of ADAMTS12 using a direct sequencing method in 303 RA patients and 495 control subjects. Multiple logistic regression models were performed to analyze the genetic data. SNPStats and SNPAnalyzer Pro programs were used to estimate the odds ratios, 95% confidence intervals and p-values. Bonferroni's correction (pc) was conducted to obtain a defined result. Of the three SNPs, the genotype frequency of rs10461703 was associated with the development of RA (pc=0.0024 in the co-dominant model; pc=0.0009 in the dominant model; pc=0.0006 in the log-additive model). The allele frequency of rs10461703 also showed a significant difference between RA and controls (pc<0.0001). The C allele frequency of rs10461703 was lower in the RA group (36.6%) compared to the control group (45.7%), whereas the T allele frequency of rs10461703 in the RA group (63.4%) was higher compared to that in the control group (54.3%). The other two SNPs (rs1364044 and rs25754) were not associated with the development of RA. However, we did not find any association between the three tested SNPs and RA patients according to clinical features, including erythrocyte sedimentation rate, C-reactive protein level, rheumatoid factor (+ and -) and bone erosion (+ and -). Our results suggest that ADAMTS12 may be a susceptibility gene for RA development.</description><subject>ADAM protein</subject><subject>ADAM Proteins - genetics</subject><subject>ADAMTS Proteins</subject><subject>Adult</subject><subject>Alleles</subject><subject>Arthritis, Rheumatoid - genetics</subject><subject>Asian people</subject><subject>C-reactive protein</subject><subject>Cartilage</subject><subject>Cartilage (articular)</subject><subject>Cartilage oligomeric matrix protein</subject><subject>Case-Control Studies</subject><subject>Collagen</subject><subject>Confidence intervals</subject><subject>Enzymes</subject><subject>Erythrocyte sedimentation rate</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Gene polymorphism</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Male</subject><subject>Matrix protein</subject><subject>Middle Aged</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Proteins</subject><subject>Regression analysis</subject><subject>Rheumatoid arthritis</subject><subject>Rheumatoid factor</subject><subject>Single-nucleotide polymorphism</subject><subject>Synovial fluid</subject><subject>Thrombospondin</subject><issn>1791-2997</issn><issn>1791-3004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</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>eNpdkM9LwzAYhoMobk5vnqXgxYObyZemSU5S5k-YeHCeQ9emNKNZatIi--_N2PQgfPB-h4eXlwehS4JnVEi4s9bPABOYiYwfoTHhkkwpxunx4Qcp-QidhbDGOGPA5CkaATDMCOdjdJ-H4EpT9MZtElcn-UP-tvwgkHSu3Vrnu8YEG5Jv0zeJb_Rgi96ZKil833jTm3COTuqiDfrikBP0-fS4nL9MF-_Pr_N8MS0p4_0UOCWcEVHhlPBSCwqaxTW8okRwSKnkNROrlS5YhERFsOSkBIFrXaVCsopO0M2-t_Pua9ChV9aEUrdtsdFuCIpEA4C5BBLR63_o2g1-E9cp4Bmjaba7CbrdU6V3IXhdq84bW_htrFI7sSqKVTuxKoqN-NWhdFhZXf3BvybpDwMicNw</recordid><startdate>20120701</startdate><enddate>20120701</enddate><creator>Nah, Seong-Su</creator><creator>Lee, Soojeong</creator><creator>Joo, Jaesoon</creator><creator>Kim, Hyung-Kee</creator><creator>Sohn, Dong-Ryul</creator><creator>Kwon, Jun-Tack</creator><creator>Woo, Kee-Min</creator><creator>Hong, Seung-Jae</creator><creator>Kim, Hak-Jae</creator><general>Spandidos Publications UK 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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20120701</creationdate><title>Association of ADAMTS12 polymorphisms with rheumatoid arthritis</title><author>Nah, Seong-Su ; Lee, Soojeong ; Joo, Jaesoon ; Kim, Hyung-Kee ; Sohn, Dong-Ryul ; Kwon, Jun-Tack ; Woo, Kee-Min ; Hong, Seung-Jae ; Kim, Hak-Jae</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-27317518d0417ce832e50657d318724397f58bbea55188d10971c280fed4895d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>ADAM protein</topic><topic>ADAM Proteins - genetics</topic><topic>ADAMTS Proteins</topic><topic>Adult</topic><topic>Alleles</topic><topic>Arthritis, Rheumatoid - genetics</topic><topic>Asian people</topic><topic>C-reactive protein</topic><topic>Cartilage</topic><topic>Cartilage (articular)</topic><topic>Cartilage oligomeric matrix protein</topic><topic>Case-Control Studies</topic><topic>Collagen</topic><topic>Confidence intervals</topic><topic>Enzymes</topic><topic>Erythrocyte sedimentation rate</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Gene polymorphism</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Male</topic><topic>Matrix protein</topic><topic>Middle Aged</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population</topic><topic>Proteins</topic><topic>Regression analysis</topic><topic>Rheumatoid arthritis</topic><topic>Rheumatoid factor</topic><topic>Single-nucleotide polymorphism</topic><topic>Synovial fluid</topic><topic>Thrombospondin</topic><toplevel>online_resources</toplevel><creatorcontrib>Nah, Seong-Su</creatorcontrib><creatorcontrib>Lee, Soojeong</creatorcontrib><creatorcontrib>Joo, Jaesoon</creatorcontrib><creatorcontrib>Kim, Hyung-Kee</creatorcontrib><creatorcontrib>Sohn, Dong-Ryul</creatorcontrib><creatorcontrib>Kwon, Jun-Tack</creatorcontrib><creatorcontrib>Woo, Kee-Min</creatorcontrib><creatorcontrib>Hong, Seung-Jae</creatorcontrib><creatorcontrib>Kim, Hak-Jae</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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</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</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</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>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>ProQuest Biological Science Journals</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>MEDLINE - Academic</collection><jtitle>Molecular medicine reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nah, Seong-Su</au><au>Lee, Soojeong</au><au>Joo, Jaesoon</au><au>Kim, Hyung-Kee</au><au>Sohn, Dong-Ryul</au><au>Kwon, Jun-Tack</au><au>Woo, Kee-Min</au><au>Hong, Seung-Jae</au><au>Kim, Hak-Jae</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of ADAMTS12 polymorphisms with rheumatoid arthritis</atitle><jtitle>Molecular medicine reports</jtitle><addtitle>Mol Med Rep</addtitle><date>2012-07-01</date><risdate>2012</risdate><volume>6</volume><issue>1</issue><spage>227</spage><epage>231</epage><pages>227-231</pages><issn>1791-2997</issn><eissn>1791-3004</eissn><abstract>a disintegrin and metalloproteinase (ADAM) with thrombospondin type 1 motif 12 (ADAMTS12) is a degradative enzyme that interacts with the degradable fragments of cartilage oligomeric matrix protein, which is a prominent non-collagenous matrix component in articular cartilage. ADAMTS12 has been observed in the cartilage, synovial fluid and serum of arthritic patients, and may play an important role in the pathogenesis of arthritis. In the present study, we investigated whether genetic polymorphisms of ADAMTS12 are associated with rheumatoid arthritis (RA). To observe the association between ADAMTS12 and RA, we genotyped three single nucleotide polymorphisms (SNPs) (rs1364044, intron C/T; rs10461703, intron C/T; rs25754, missense Thr1495Ile) of ADAMTS12 using a direct sequencing method in 303 RA patients and 495 control subjects. Multiple logistic regression models were performed to analyze the genetic data. SNPStats and SNPAnalyzer Pro programs were used to estimate the odds ratios, 95% confidence intervals and p-values. Bonferroni's correction (pc) was conducted to obtain a defined result. Of the three SNPs, the genotype frequency of rs10461703 was associated with the development of RA (pc=0.0024 in the co-dominant model; pc=0.0009 in the dominant model; pc=0.0006 in the log-additive model). The allele frequency of rs10461703 also showed a significant difference between RA and controls (pc<0.0001). The C allele frequency of rs10461703 was lower in the RA group (36.6%) compared to the control group (45.7%), whereas the T allele frequency of rs10461703 in the RA group (63.4%) was higher compared to that in the control group (54.3%). The other two SNPs (rs1364044 and rs25754) were not associated with the development of RA. However, we did not find any association between the three tested SNPs and RA patients according to clinical features, including erythrocyte sedimentation rate, C-reactive protein level, rheumatoid factor (+ and -) and bone erosion (+ and -). Our results suggest that ADAMTS12 may be a susceptibility gene for RA development.</abstract><cop>Greece</cop><pub>Spandidos Publications UK Ltd</pub><pmid>22505177</pmid><doi>10.3892/mmr.2012.867</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | ADAM protein ADAM Proteins - genetics ADAMTS Proteins Adult Alleles Arthritis, Rheumatoid - genetics Asian people C-reactive protein Cartilage Cartilage (articular) Cartilage oligomeric matrix protein Case-Control Studies Collagen Confidence intervals Enzymes Erythrocyte sedimentation rate Female Gene Frequency Gene polymorphism Genetic Predisposition to Disease Genotype Genotype & phenotype Humans Male Matrix protein Middle Aged Pathogenesis Patients Polymorphism, Single Nucleotide Population Proteins Regression analysis Rheumatoid arthritis Rheumatoid factor Single-nucleotide polymorphism Synovial fluid Thrombospondin |
| title | Association of ADAMTS12 polymorphisms with rheumatoid arthritis |
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