Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture
Dupuytren's contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and...
Gespeichert in:
| Veröffentlicht in: | Genes 2021-08, Vol.12 (9), p.1293 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 9 |
| container_start_page | 1293 |
| container_title | Genes |
| container_volume | 12 |
| creator | Samulėnas, Gediminas Smalinskienė, Alina Rimdeika, Rytis Braziulis, Kęstutis Fomkinas, Mantas Paškevičius, Rokas |
| description | Dupuytren's contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and pathogenesis of DC. Our study aimed to evaluate the associations between Dupuytren's contracture and WNT-related single-nucleotide polymorphisms: Wnt Family Member 7B (
rs6519955 (G/T), Secreted Frizzled Related Protein 4 (
) rs17171229 (C/T) and R-spondin 2 (
rs611744 (A/G). We enrolled 216 patients (113 DC cases and 103 healthy controls), and DNA samples were extracted from the peripheral blood. Genotyping of
rs6519955,
rs17171229 and
rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems.
rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624-7.610;
= 0.001), whereas
rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258-0.908,
= 0.024). In conclusion, SNPs
rs6519955 and
rs611744 are associated with the development of Dupuytren's contracture:
rs6519955 TT genotype increases the chances by 3.5-fold, and
rs611744 genotype GG appears to attenuate the likelihood of the manifestation of DC nearly twofold. Findings of genotype distributions among DC patients and control groups suggest that
rs17171229 is not significantly associated with development of the disease. |
| doi_str_mv | 10.3390/genes12091293 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8469921</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2576411076</sourcerecordid><originalsourceid>FETCH-LOGICAL-c415t-9d580f8326703eff6d547b2959e31750c58df468bdce4e10a8233a11c57d42673</originalsourceid><addsrcrecordid>eNpdkU9vFCEYh4nR2Kb26NWQeNCDo7z8GYaLSV3batLYTbfqkbAzzC7NLKzAtNlP4VeWsbVphQMEHh5e-CH0Esh7xhT5sLLeJqBEAVXsCdqnRLKKcyqePpjvocOUrkhpnFBCxHO0x7iQjEqxj34fX5thNNkFj0OPf367xAu38mZwfoXnJq9vzA6flmvwDxOd8TlNjPyEY6oFKCXEO7w4uZjzsgCydEoVNr7DF4v5OZ0oAMk5dn6yOTsJblxe48_jdtzlaP2bhGfB52jaPEb7Aj3rzZDs4d14gL6fHF_OvlRn56dfZ0dnVctB5Ep1oiF9w2gtCbN9X3eCyyVVQlkGUpBWNF3P62bZtZZbIKahjBmAVsiOl0PsAH289W7H5cYWaqpg0NvoNibudDBOP97xbq1X4Vo3vFaKQhG8vRPE8Gu0KeuNS60dBuNtGJOmQkpeAxesoK__Q6_CGMsf_6VqDkBkXajqlmpjSCna_r4YIHpKWz9Ku_CvHr7gnv6XLfsDcDyh2g</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2576411076</pqid></control><display><type>article</type><title>Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central Open Access</source><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>PubMed Central</source><creator>Samulėnas, Gediminas ; Smalinskienė, Alina ; Rimdeika, Rytis ; Braziulis, Kęstutis ; Fomkinas, Mantas ; Paškevičius, Rokas</creator><creatorcontrib>Samulėnas, Gediminas ; Smalinskienė, Alina ; Rimdeika, Rytis ; Braziulis, Kęstutis ; Fomkinas, Mantas ; Paškevičius, Rokas</creatorcontrib><description>Dupuytren's contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and pathogenesis of DC. Our study aimed to evaluate the associations between Dupuytren's contracture and WNT-related single-nucleotide polymorphisms: Wnt Family Member 7B (
rs6519955 (G/T), Secreted Frizzled Related Protein 4 (
) rs17171229 (C/T) and R-spondin 2 (
rs611744 (A/G). We enrolled 216 patients (113 DC cases and 103 healthy controls), and DNA samples were extracted from the peripheral blood. Genotyping of
rs6519955,
rs17171229 and
rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems.
rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624-7.610;
= 0.001), whereas
rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258-0.908,
= 0.024). In conclusion, SNPs
rs6519955 and
rs611744 are associated with the development of Dupuytren's contracture:
rs6519955 TT genotype increases the chances by 3.5-fold, and
rs611744 genotype GG appears to attenuate the likelihood of the manifestation of DC nearly twofold. Findings of genotype distributions among DC patients and control groups suggest that
rs17171229 is not significantly associated with development of the disease.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes12091293</identifier><identifier>PMID: 34573275</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adult ; Dupuytren Contracture - genetics ; Family medical history ; Female ; Frizzled protein ; Gene expression ; Genomes ; Genotype & phenotype ; Genotyping ; Humans ; Intercellular Signaling Peptides and Proteins - genetics ; Male ; Middle Aged ; Pathogenesis ; Peripheral blood ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins - genetics ; Signal transduction ; Single-nucleotide polymorphism ; Software ; Statistical analysis ; Wnt protein ; Wnt Proteins - genetics</subject><ispartof>Genes, 2021-08, Vol.12 (9), p.1293</ispartof><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2021 by the authors. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c415t-9d580f8326703eff6d547b2959e31750c58df468bdce4e10a8233a11c57d42673</citedby><cites>FETCH-LOGICAL-c415t-9d580f8326703eff6d547b2959e31750c58df468bdce4e10a8233a11c57d42673</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/PMC8469921/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469921/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34573275$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Samulėnas, Gediminas</creatorcontrib><creatorcontrib>Smalinskienė, Alina</creatorcontrib><creatorcontrib>Rimdeika, Rytis</creatorcontrib><creatorcontrib>Braziulis, Kęstutis</creatorcontrib><creatorcontrib>Fomkinas, Mantas</creatorcontrib><creatorcontrib>Paškevičius, Rokas</creatorcontrib><title>Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>Dupuytren's contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and pathogenesis of DC. Our study aimed to evaluate the associations between Dupuytren's contracture and WNT-related single-nucleotide polymorphisms: Wnt Family Member 7B (
rs6519955 (G/T), Secreted Frizzled Related Protein 4 (
) rs17171229 (C/T) and R-spondin 2 (
rs611744 (A/G). We enrolled 216 patients (113 DC cases and 103 healthy controls), and DNA samples were extracted from the peripheral blood. Genotyping of
rs6519955,
rs17171229 and
rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems.
rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624-7.610;
= 0.001), whereas
rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258-0.908,
= 0.024). In conclusion, SNPs
rs6519955 and
rs611744 are associated with the development of Dupuytren's contracture:
rs6519955 TT genotype increases the chances by 3.5-fold, and
rs611744 genotype GG appears to attenuate the likelihood of the manifestation of DC nearly twofold. Findings of genotype distributions among DC patients and control groups suggest that
rs17171229 is not significantly associated with development of the disease.</description><subject>Adult</subject><subject>Dupuytren Contracture - genetics</subject><subject>Family medical history</subject><subject>Female</subject><subject>Frizzled protein</subject><subject>Gene expression</subject><subject>Genomes</subject><subject>Genotype & phenotype</subject><subject>Genotyping</subject><subject>Humans</subject><subject>Intercellular Signaling Peptides and Proteins - genetics</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pathogenesis</subject><subject>Peripheral blood</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Signal transduction</subject><subject>Single-nucleotide polymorphism</subject><subject>Software</subject><subject>Statistical analysis</subject><subject>Wnt protein</subject><subject>Wnt Proteins - genetics</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</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>eNpdkU9vFCEYh4nR2Kb26NWQeNCDo7z8GYaLSV3batLYTbfqkbAzzC7NLKzAtNlP4VeWsbVphQMEHh5e-CH0Esh7xhT5sLLeJqBEAVXsCdqnRLKKcyqePpjvocOUrkhpnFBCxHO0x7iQjEqxj34fX5thNNkFj0OPf367xAu38mZwfoXnJq9vzA6flmvwDxOd8TlNjPyEY6oFKCXEO7w4uZjzsgCydEoVNr7DF4v5OZ0oAMk5dn6yOTsJblxe48_jdtzlaP2bhGfB52jaPEb7Aj3rzZDs4d14gL6fHF_OvlRn56dfZ0dnVctB5Ep1oiF9w2gtCbN9X3eCyyVVQlkGUpBWNF3P62bZtZZbIKahjBmAVsiOl0PsAH289W7H5cYWaqpg0NvoNibudDBOP97xbq1X4Vo3vFaKQhG8vRPE8Gu0KeuNS60dBuNtGJOmQkpeAxesoK__Q6_CGMsf_6VqDkBkXajqlmpjSCna_r4YIHpKWz9Ku_CvHr7gnv6XLfsDcDyh2g</recordid><startdate>20210824</startdate><enddate>20210824</enddate><creator>Samulėnas, Gediminas</creator><creator>Smalinskienė, Alina</creator><creator>Rimdeika, Rytis</creator><creator>Braziulis, Kęstutis</creator><creator>Fomkinas, Mantas</creator><creator>Paškevičius, Rokas</creator><general>MDPI AG</general><general>MDPI</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>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20210824</creationdate><title>Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture</title><author>Samulėnas, Gediminas ; Smalinskienė, Alina ; Rimdeika, Rytis ; Braziulis, Kęstutis ; Fomkinas, Mantas ; Paškevičius, Rokas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c415t-9d580f8326703eff6d547b2959e31750c58df468bdce4e10a8233a11c57d42673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adult</topic><topic>Dupuytren Contracture - genetics</topic><topic>Family medical history</topic><topic>Female</topic><topic>Frizzled protein</topic><topic>Gene expression</topic><topic>Genomes</topic><topic>Genotype & phenotype</topic><topic>Genotyping</topic><topic>Humans</topic><topic>Intercellular Signaling Peptides and Proteins - genetics</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pathogenesis</topic><topic>Peripheral blood</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Signal transduction</topic><topic>Single-nucleotide polymorphism</topic><topic>Software</topic><topic>Statistical analysis</topic><topic>Wnt protein</topic><topic>Wnt Proteins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Samulėnas, Gediminas</creatorcontrib><creatorcontrib>Smalinskienė, Alina</creatorcontrib><creatorcontrib>Rimdeika, Rytis</creatorcontrib><creatorcontrib>Braziulis, Kęstutis</creatorcontrib><creatorcontrib>Fomkinas, Mantas</creatorcontrib><creatorcontrib>Paškevičius, Rokas</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content 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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Samulėnas, Gediminas</au><au>Smalinskienė, Alina</au><au>Rimdeika, Rytis</au><au>Braziulis, Kęstutis</au><au>Fomkinas, Mantas</au><au>Paškevičius, Rokas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2021-08-24</date><risdate>2021</risdate><volume>12</volume><issue>9</issue><spage>1293</spage><pages>1293-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>Dupuytren's contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and pathogenesis of DC. Our study aimed to evaluate the associations between Dupuytren's contracture and WNT-related single-nucleotide polymorphisms: Wnt Family Member 7B (
rs6519955 (G/T), Secreted Frizzled Related Protein 4 (
) rs17171229 (C/T) and R-spondin 2 (
rs611744 (A/G). We enrolled 216 patients (113 DC cases and 103 healthy controls), and DNA samples were extracted from the peripheral blood. Genotyping of
rs6519955,
rs17171229 and
rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems.
rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624-7.610;
= 0.001), whereas
rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258-0.908,
= 0.024). In conclusion, SNPs
rs6519955 and
rs611744 are associated with the development of Dupuytren's contracture:
rs6519955 TT genotype increases the chances by 3.5-fold, and
rs611744 genotype GG appears to attenuate the likelihood of the manifestation of DC nearly twofold. Findings of genotype distributions among DC patients and control groups suggest that
rs17171229 is not significantly associated with development of the disease.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>34573275</pmid><doi>10.3390/genes12091293</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2073-4425 |
| ispartof | Genes, 2021-08, Vol.12 (9), p.1293 |
| issn | 2073-4425 2073-4425 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8469921 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central |
| subjects | Adult Dupuytren Contracture - genetics Family medical history Female Frizzled protein Gene expression Genomes Genotype & phenotype Genotyping Humans Intercellular Signaling Peptides and Proteins - genetics Male Middle Aged Pathogenesis Peripheral blood Polymorphism, Single Nucleotide Proto-Oncogene Proteins - genetics Signal transduction Single-nucleotide polymorphism Software Statistical analysis Wnt protein Wnt Proteins - genetics |
| title | Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-06T08%3A32%3A05IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Evaluation%20of%20WNT%20Signaling%20Pathway%20Gene%20Variants%20WNT7B%20rs6519955,%20SFRP4%20rs17171229%20and%20RSPO2%20rs611744%20in%20Patients%20with%20Dupuytren's%20Contracture&rft.jtitle=Genes&rft.au=Samul%C4%97nas,%20Gediminas&rft.date=2021-08-24&rft.volume=12&rft.issue=9&rft.spage=1293&rft.pages=1293-&rft.issn=2073-4425&rft.eissn=2073-4425&rft_id=info:doi/10.3390/genes12091293&rft_dat=%3Cproquest_pubme%3E2576411076%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2576411076&rft_id=info:pmid/34573275&rfr_iscdi=true |