The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture
(1) Background: genetic variations, localized in the functional regions of the extracellular matrix (ECM) modulation-related genes, may alter the transcription process and impact the Dupuytren’s contracture (DC). The present study investigated the association of single nucleotide polymorphisms (SNPs...
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MDPI AG
2022-04-01
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| author | Gediminas Samulenas Ruta Insodaite Edita Kunceviciene Roberta Poceviciute Lorena Masionyte Urte Zitkeviciute Loreta Pilipaityte Alina Smalinskiene |
| author_facet | Gediminas Samulenas Ruta Insodaite Edita Kunceviciene Roberta Poceviciute Lorena Masionyte Urte Zitkeviciute Loreta Pilipaityte Alina Smalinskiene |
| author_sort | Gediminas Samulenas |
| collection | DOAJ |
| description | (1) Background: genetic variations, localized in the functional regions of the extracellular matrix (ECM) modulation-related genes, may alter the transcription process and impact the Dupuytren’s contracture (DC). The present study investigated the association of single nucleotide polymorphisms (SNPs), localized in the functional regions of the <i>MMP8</i>, <i>MMP14</i>, and <i>CHST6</i> genes, with DC risk. (2) Methods: we enrolled 219 genomic DNA samples, which were extracted from 116 patients with DC and 103 healthy controls. Genotyping of selected SNPs was performed using TaqMan single nucleotide polymorphisms genotyping assay. Three polymorphisms (<i>MMP8</i> rs11225395, <i>MMP14</i> rs1042704, and <i>CHST6</i> rs977987) were analyzed. All studied SNPs were in Hardy–Weinberg equilibrium. (3) Results: significant associations of the studied SNPs with the previous onset of the disease were observed between the <i>CHST6</i> rs977987 minor T allele (<i>p</i> = 0.036) and the <i>MMP14</i> rs1042704 mutant AA genotype (<i>p</i> = 0.024). Significant associations with the previous onset of the disease were also observed with a positive family history of the DC (<i>p</i> = 0.035). Moreover, risk factor analysis revealed that a combination of major disease risk factors (smoking and manual labor) and the <i>MMP14</i> minor A allele increases the risk of DC development by fourteen times (<i>p</i> = 0.010). (4) Conclusions: our findings suggest that <i>CHST6</i> rs977987, <i>MMP14</i> rs1042704, and positive family history are associated with the previous onset of Dupuytren’s contracture. In addition, the combination of the <i>MMP14</i> minor A allele and additional risk factors increase the likelihood of the manifestation of the DC. |
| first_indexed | 2024-03-10T03:50:39Z |
| format | Article |
| id | doaj.art-cc9ad20db3dd49dc8278b9a9707b7e49 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T03:50:39Z |
| publishDate | 2022-04-01 |
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| series | Genes |
| spelling | doaj.art-cc9ad20db3dd49dc8278b9a9707b7e492023-11-23T11:08:47ZengMDPI AGGenes2073-44252022-04-0113574310.3390/genes13050743The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s ContractureGediminas Samulenas0Ruta Insodaite1Edita Kunceviciene2Roberta Poceviciute3Lorena Masionyte4Urte Zitkeviciute5Loreta Pilipaityte6Alina Smalinskiene7Department of Plastic and Reconstructive Surgery, Lithuanian University of Health Sciences, LT 50009 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, LT 50103 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, LT 50103 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, LT 50103 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, LT 50103 Kaunas, LithuaniaFaculty of Medicine, Lithuanian University of Health Sciences, LT 44307 Kaunas, LithuaniaDepartment of Plastic and Reconstructive Surgery, Lithuanian University of Health Sciences, LT 50009 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, LT 50103 Kaunas, Lithuania(1) Background: genetic variations, localized in the functional regions of the extracellular matrix (ECM) modulation-related genes, may alter the transcription process and impact the Dupuytren’s contracture (DC). The present study investigated the association of single nucleotide polymorphisms (SNPs), localized in the functional regions of the <i>MMP8</i>, <i>MMP14</i>, and <i>CHST6</i> genes, with DC risk. (2) Methods: we enrolled 219 genomic DNA samples, which were extracted from 116 patients with DC and 103 healthy controls. Genotyping of selected SNPs was performed using TaqMan single nucleotide polymorphisms genotyping assay. Three polymorphisms (<i>MMP8</i> rs11225395, <i>MMP14</i> rs1042704, and <i>CHST6</i> rs977987) were analyzed. All studied SNPs were in Hardy–Weinberg equilibrium. (3) Results: significant associations of the studied SNPs with the previous onset of the disease were observed between the <i>CHST6</i> rs977987 minor T allele (<i>p</i> = 0.036) and the <i>MMP14</i> rs1042704 mutant AA genotype (<i>p</i> = 0.024). Significant associations with the previous onset of the disease were also observed with a positive family history of the DC (<i>p</i> = 0.035). Moreover, risk factor analysis revealed that a combination of major disease risk factors (smoking and manual labor) and the <i>MMP14</i> minor A allele increases the risk of DC development by fourteen times (<i>p</i> = 0.010). (4) Conclusions: our findings suggest that <i>CHST6</i> rs977987, <i>MMP14</i> rs1042704, and positive family history are associated with the previous onset of Dupuytren’s contracture. In addition, the combination of the <i>MMP14</i> minor A allele and additional risk factors increase the likelihood of the manifestation of the DC.https://www.mdpi.com/2073-4425/13/5/743Dupuytren’s contracturesingle-nucleotide polymorphismextracellular matrix<i>MMP8</i><i>MMP14</i><i>CHST6</i> |
| spellingShingle | Gediminas Samulenas Ruta Insodaite Edita Kunceviciene Roberta Poceviciute Lorena Masionyte Urte Zitkeviciute Loreta Pilipaityte Alina Smalinskiene The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture Genes Dupuytren’s contracture single-nucleotide polymorphism extracellular matrix <i>MMP8</i> <i>MMP14</i> <i>CHST6</i> |
| title | The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture |
| title_full | The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture |
| title_fullStr | The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture |
| title_full_unstemmed | The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture |
| title_short | The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture |
| title_sort | role of functional polymorphisms in the extracellular matrix modulation related genes on dupuytren s contracture |
| topic | Dupuytren’s contracture single-nucleotide polymorphism extracellular matrix <i>MMP8</i> <i>MMP14</i> <i>CHST6</i> |
| url | https://www.mdpi.com/2073-4425/13/5/743 |
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