TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females
ABSTRACT Idiopathic scoliosis (IS) etiology remains unclear, but strong genetic background is suggested. Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. However, there has been a lack of investigation into intragenic TIMP2...
Gespeichert in:
| Veröffentlicht in: | Journal of orthopaedic research 2019-10, Vol.37 (10), p.2217-2225 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 2225 |
|---|---|
| container_issue | 10 |
| container_start_page | 2217 |
| container_title | Journal of orthopaedic research |
| container_volume | 37 |
| creator | Andrusiewicz, Mirosław Harasymczuk, Piotr Janusz, Piotr Biecek, Przemysław Żbikowska, Aleksandra Kotwicka, Małgorzata Kotwicki, Tomasz |
| description | ABSTRACT
Idiopathic scoliosis (IS) etiology remains unclear, but strong genetic background is suggested. Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. However, there has been a lack of investigation into intragenic TIMP2 polymorphisms in IS patients. We recruited 100 Caucasian females with IS and 100 controls. Patients were subdivided accordingly to: progression rate, curve severity, joint mobility, and curve pattern. Allele‐specific‐polymerase chain reaction based on fluorescence resonance energy transfer was applied to evaluate nine TIMP2 polymorphisms. Distribution of genotype and allele frequency in only one polymorphism (rs11658743) differed in case–control study. Four of the polymorphisms (rs2277700, rs11077401, rs2376999, and rs4789934) showed non‐equal distributions either in genotype or/and allele distributions in the patients of different progression rates. The rs11077401 was related to curve severity patients distinction and the rs8179090 distinguished patients with different joint mobility level. Two polymorphisms either differed statistically in case of curve patterns subgrouping (rs8068674 and rs8179090) or showed a slight tendency toward significance in the recessive model of allele distributions (rs9916809 and rs8179090). The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. The influence of the G allele of the rs8179090 on the clinical course of IS has not yet been confirmed. We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. Further genetic association studies based on suggested clinical criteria would be necessary to validate TIMP2 polymorphisms associated with the curve progression. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:2217–2225, 2019 |
| doi_str_mv | 10.1002/jor.24380 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2232112166</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2232112166</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3250-7523274677441ee8bf9f5f2ed5799ec9a3eb9f690146b1deec533ff18afeaab93</originalsourceid><addsrcrecordid>eNp1kLtOwzAUQC0EgvIY-AHkEYaAH3mOqKJQBKKCItgix7kmRklcfBNQJ36dQAsb033o6AyHkEPOTjlj4uzV-VMRypRtkBGPojCIRPK8SUYskXHARBzvkF3EV8ZYwkW6TXYk5zxLGRuRz_n0dibozNXLxvlFZbFBeo7otFWddS19sl1Fx71_Bzptbbf-qrakM-9ePCB-387QeeW80lbTaWndQnXVsD5oV1uHFqltaVcBHateK7SqpRNoVA24T7aMqhEO1nOPPE4u5uOr4Obucjo-vwm0FBELkkhIkYRxkoQhB0gLk5nICCijJMtAZ0pCkZk4YzyMC14C6EhKY3iqDChVZHKPHK-8C-_eesAubyxqqGvVgusxF4Ofc8HjeEBPVqj2DtGDyRfeNsovc87y79750Dv_6T2wR2ttXzRQ_pG_gQfgbAV82BqW_5vy67v7lfILq16Lzw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2232112166</pqid></control><display><type>article</type><title>TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Wiley Online Library Free Content</source><creator>Andrusiewicz, Mirosław ; Harasymczuk, Piotr ; Janusz, Piotr ; Biecek, Przemysław ; Żbikowska, Aleksandra ; Kotwicka, Małgorzata ; Kotwicki, Tomasz</creator><creatorcontrib>Andrusiewicz, Mirosław ; Harasymczuk, Piotr ; Janusz, Piotr ; Biecek, Przemysław ; Żbikowska, Aleksandra ; Kotwicka, Małgorzata ; Kotwicki, Tomasz</creatorcontrib><description>ABSTRACT
Idiopathic scoliosis (IS) etiology remains unclear, but strong genetic background is suggested. Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. However, there has been a lack of investigation into intragenic TIMP2 polymorphisms in IS patients. We recruited 100 Caucasian females with IS and 100 controls. Patients were subdivided accordingly to: progression rate, curve severity, joint mobility, and curve pattern. Allele‐specific‐polymerase chain reaction based on fluorescence resonance energy transfer was applied to evaluate nine TIMP2 polymorphisms. Distribution of genotype and allele frequency in only one polymorphism (rs11658743) differed in case–control study. Four of the polymorphisms (rs2277700, rs11077401, rs2376999, and rs4789934) showed non‐equal distributions either in genotype or/and allele distributions in the patients of different progression rates. The rs11077401 was related to curve severity patients distinction and the rs8179090 distinguished patients with different joint mobility level. Two polymorphisms either differed statistically in case of curve patterns subgrouping (rs8068674 and rs8179090) or showed a slight tendency toward significance in the recessive model of allele distributions (rs9916809 and rs8179090). The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. The influence of the G allele of the rs8179090 on the clinical course of IS has not yet been confirmed. We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. Further genetic association studies based on suggested clinical criteria would be necessary to validate TIMP2 polymorphisms associated with the curve progression. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:2217–2225, 2019</description><identifier>ISSN: 0736-0266</identifier><identifier>EISSN: 1554-527X</identifier><identifier>DOI: 10.1002/jor.24380</identifier><identifier>PMID: 31119800</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Alleles ; Case-Control Studies ; Child ; Cobb angle ; curve progression ; Disease Progression ; European Continental Ancestry Group ; Female ; genetic association study ; Genotype ; Humans ; idiopathic scoliosis ; Joint Instability - genetics ; Polymorphism, Single Nucleotide ; Scoliosis - diagnostic imaging ; Scoliosis - genetics ; Thoracic Vertebrae - diagnostic imaging ; tissue inhibitor of metalloproteinase 2 gene (TIMP2) ; Tissue Inhibitor of Metalloproteinase-2 - genetics</subject><ispartof>Journal of orthopaedic research, 2019-10, Vol.37 (10), p.2217-2225</ispartof><rights>2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3250-7523274677441ee8bf9f5f2ed5799ec9a3eb9f690146b1deec533ff18afeaab93</citedby><cites>FETCH-LOGICAL-c3250-7523274677441ee8bf9f5f2ed5799ec9a3eb9f690146b1deec533ff18afeaab93</cites><orcidid>0000-0002-9802-374X ; 0000-0003-0810-9361 ; 0000-0002-8781-3447 ; 0000-0002-6891-8569</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fjor.24380$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fjor.24380$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27903,27904,45553,45554,46387,46811</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31119800$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Andrusiewicz, Mirosław</creatorcontrib><creatorcontrib>Harasymczuk, Piotr</creatorcontrib><creatorcontrib>Janusz, Piotr</creatorcontrib><creatorcontrib>Biecek, Przemysław</creatorcontrib><creatorcontrib>Żbikowska, Aleksandra</creatorcontrib><creatorcontrib>Kotwicka, Małgorzata</creatorcontrib><creatorcontrib>Kotwicki, Tomasz</creatorcontrib><title>TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females</title><title>Journal of orthopaedic research</title><addtitle>J Orthop Res</addtitle><description>ABSTRACT
Idiopathic scoliosis (IS) etiology remains unclear, but strong genetic background is suggested. Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. However, there has been a lack of investigation into intragenic TIMP2 polymorphisms in IS patients. We recruited 100 Caucasian females with IS and 100 controls. Patients were subdivided accordingly to: progression rate, curve severity, joint mobility, and curve pattern. Allele‐specific‐polymerase chain reaction based on fluorescence resonance energy transfer was applied to evaluate nine TIMP2 polymorphisms. Distribution of genotype and allele frequency in only one polymorphism (rs11658743) differed in case–control study. Four of the polymorphisms (rs2277700, rs11077401, rs2376999, and rs4789934) showed non‐equal distributions either in genotype or/and allele distributions in the patients of different progression rates. The rs11077401 was related to curve severity patients distinction and the rs8179090 distinguished patients with different joint mobility level. Two polymorphisms either differed statistically in case of curve patterns subgrouping (rs8068674 and rs8179090) or showed a slight tendency toward significance in the recessive model of allele distributions (rs9916809 and rs8179090). The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. The influence of the G allele of the rs8179090 on the clinical course of IS has not yet been confirmed. We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. Further genetic association studies based on suggested clinical criteria would be necessary to validate TIMP2 polymorphisms associated with the curve progression. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:2217–2225, 2019</description><subject>Adolescent</subject><subject>Alleles</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Cobb angle</subject><subject>curve progression</subject><subject>Disease Progression</subject><subject>European Continental Ancestry Group</subject><subject>Female</subject><subject>genetic association study</subject><subject>Genotype</subject><subject>Humans</subject><subject>idiopathic scoliosis</subject><subject>Joint Instability - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Scoliosis - diagnostic imaging</subject><subject>Scoliosis - genetics</subject><subject>Thoracic Vertebrae - diagnostic imaging</subject><subject>tissue inhibitor of metalloproteinase 2 gene (TIMP2)</subject><subject>Tissue Inhibitor of Metalloproteinase-2 - genetics</subject><issn>0736-0266</issn><issn>1554-527X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kLtOwzAUQC0EgvIY-AHkEYaAH3mOqKJQBKKCItgix7kmRklcfBNQJ36dQAsb033o6AyHkEPOTjlj4uzV-VMRypRtkBGPojCIRPK8SUYskXHARBzvkF3EV8ZYwkW6TXYk5zxLGRuRz_n0dibozNXLxvlFZbFBeo7otFWddS19sl1Fx71_Bzptbbf-qrakM-9ePCB-387QeeW80lbTaWndQnXVsD5oV1uHFqltaVcBHateK7SqpRNoVA24T7aMqhEO1nOPPE4u5uOr4Obucjo-vwm0FBELkkhIkYRxkoQhB0gLk5nICCijJMtAZ0pCkZk4YzyMC14C6EhKY3iqDChVZHKPHK-8C-_eesAubyxqqGvVgusxF4Ofc8HjeEBPVqj2DtGDyRfeNsovc87y79750Dv_6T2wR2ttXzRQ_pG_gQfgbAV82BqW_5vy67v7lfILq16Lzw</recordid><startdate>201910</startdate><enddate>201910</enddate><creator>Andrusiewicz, Mirosław</creator><creator>Harasymczuk, Piotr</creator><creator>Janusz, Piotr</creator><creator>Biecek, Przemysław</creator><creator>Żbikowska, Aleksandra</creator><creator>Kotwicka, Małgorzata</creator><creator>Kotwicki, Tomasz</creator><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>7X8</scope><orcidid>https://orcid.org/0000-0002-9802-374X</orcidid><orcidid>https://orcid.org/0000-0003-0810-9361</orcidid><orcidid>https://orcid.org/0000-0002-8781-3447</orcidid><orcidid>https://orcid.org/0000-0002-6891-8569</orcidid></search><sort><creationdate>201910</creationdate><title>TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females</title><author>Andrusiewicz, Mirosław ; Harasymczuk, Piotr ; Janusz, Piotr ; Biecek, Przemysław ; Żbikowska, Aleksandra ; Kotwicka, Małgorzata ; Kotwicki, Tomasz</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3250-7523274677441ee8bf9f5f2ed5799ec9a3eb9f690146b1deec533ff18afeaab93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Adolescent</topic><topic>Alleles</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Cobb angle</topic><topic>curve progression</topic><topic>Disease Progression</topic><topic>European Continental Ancestry Group</topic><topic>Female</topic><topic>genetic association study</topic><topic>Genotype</topic><topic>Humans</topic><topic>idiopathic scoliosis</topic><topic>Joint Instability - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Scoliosis - diagnostic imaging</topic><topic>Scoliosis - genetics</topic><topic>Thoracic Vertebrae - diagnostic imaging</topic><topic>tissue inhibitor of metalloproteinase 2 gene (TIMP2)</topic><topic>Tissue Inhibitor of Metalloproteinase-2 - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Andrusiewicz, Mirosław</creatorcontrib><creatorcontrib>Harasymczuk, Piotr</creatorcontrib><creatorcontrib>Janusz, Piotr</creatorcontrib><creatorcontrib>Biecek, Przemysław</creatorcontrib><creatorcontrib>Żbikowska, Aleksandra</creatorcontrib><creatorcontrib>Kotwicka, Małgorzata</creatorcontrib><creatorcontrib>Kotwicki, Tomasz</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of orthopaedic research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Andrusiewicz, Mirosław</au><au>Harasymczuk, Piotr</au><au>Janusz, Piotr</au><au>Biecek, Przemysław</au><au>Żbikowska, Aleksandra</au><au>Kotwicka, Małgorzata</au><au>Kotwicki, Tomasz</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females</atitle><jtitle>Journal of orthopaedic research</jtitle><addtitle>J Orthop Res</addtitle><date>2019-10</date><risdate>2019</risdate><volume>37</volume><issue>10</issue><spage>2217</spage><epage>2225</epage><pages>2217-2225</pages><issn>0736-0266</issn><eissn>1554-527X</eissn><abstract>ABSTRACT
Idiopathic scoliosis (IS) etiology remains unclear, but strong genetic background is suggested. Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. However, there has been a lack of investigation into intragenic TIMP2 polymorphisms in IS patients. We recruited 100 Caucasian females with IS and 100 controls. Patients were subdivided accordingly to: progression rate, curve severity, joint mobility, and curve pattern. Allele‐specific‐polymerase chain reaction based on fluorescence resonance energy transfer was applied to evaluate nine TIMP2 polymorphisms. Distribution of genotype and allele frequency in only one polymorphism (rs11658743) differed in case–control study. Four of the polymorphisms (rs2277700, rs11077401, rs2376999, and rs4789934) showed non‐equal distributions either in genotype or/and allele distributions in the patients of different progression rates. The rs11077401 was related to curve severity patients distinction and the rs8179090 distinguished patients with different joint mobility level. Two polymorphisms either differed statistically in case of curve patterns subgrouping (rs8068674 and rs8179090) or showed a slight tendency toward significance in the recessive model of allele distributions (rs9916809 and rs8179090). The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. The influence of the G allele of the rs8179090 on the clinical course of IS has not yet been confirmed. We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. Further genetic association studies based on suggested clinical criteria would be necessary to validate TIMP2 polymorphisms associated with the curve progression. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:2217–2225, 2019</abstract><cop>United States</cop><pmid>31119800</pmid><doi>10.1002/jor.24380</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-9802-374X</orcidid><orcidid>https://orcid.org/0000-0003-0810-9361</orcidid><orcidid>https://orcid.org/0000-0002-8781-3447</orcidid><orcidid>https://orcid.org/0000-0002-6891-8569</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0736-0266 |
| ispartof | Journal of orthopaedic research, 2019-10, Vol.37 (10), p.2217-2225 |
| issn | 0736-0266 1554-527X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2232112166 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Online Library Free Content |
| subjects | Adolescent Alleles Case-Control Studies Child Cobb angle curve progression Disease Progression European Continental Ancestry Group Female genetic association study Genotype Humans idiopathic scoliosis Joint Instability - genetics Polymorphism, Single Nucleotide Scoliosis - diagnostic imaging Scoliosis - genetics Thoracic Vertebrae - diagnostic imaging tissue inhibitor of metalloproteinase 2 gene (TIMP2) Tissue Inhibitor of Metalloproteinase-2 - genetics |
| title | TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-26T17%3A13%3A17IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=TIMP2%20Polymorphisms%20Association%20With%20Curve%20Initiation%20and%20Progression%20of%20Thoracic%20Idiopathic%20Scoliosis%20in%20the%20Caucasian%20Females&rft.jtitle=Journal%20of%20orthopaedic%20research&rft.au=Andrusiewicz,%20Miros%C5%82aw&rft.date=2019-10&rft.volume=37&rft.issue=10&rft.spage=2217&rft.epage=2225&rft.pages=2217-2225&rft.issn=0736-0266&rft.eissn=1554-527X&rft_id=info:doi/10.1002/jor.24380&rft_dat=%3Cproquest_cross%3E2232112166%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2232112166&rft_id=info:pmid/31119800&rfr_iscdi=true |