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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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Autores principales: Samulenas, Gediminas, Insodaite, Ruta, Kunceviciene, Edita, Poceviciute, Roberta, Masionyte, Lorena, Zitkeviciute, Urte, Pilipaityte, Loreta, Smalinskiene, Alina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141853/
https://www.ncbi.nlm.nih.gov/pubmed/35627129
http://dx.doi.org/10.3390/genes13050743
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author Samulenas, Gediminas
Insodaite, Ruta
Kunceviciene, Edita
Poceviciute, Roberta
Masionyte, Lorena
Zitkeviciute, Urte
Pilipaityte, Loreta
Smalinskiene, Alina
author_facet Samulenas, Gediminas
Insodaite, Ruta
Kunceviciene, Edita
Poceviciute, Roberta
Masionyte, Lorena
Zitkeviciute, Urte
Pilipaityte, Loreta
Smalinskiene, Alina
author_sort Samulenas, Gediminas
collection PubMed
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 MMP8, MMP14, and CHST6 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 (MMP8 rs11225395, MMP14 rs1042704, and CHST6 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 CHST6 rs977987 minor T allele (p = 0.036) and the MMP14 rs1042704 mutant AA genotype (p = 0.024). Significant associations with the previous onset of the disease were also observed with a positive family history of the DC (p = 0.035). Moreover, risk factor analysis revealed that a combination of major disease risk factors (smoking and manual labor) and the MMP14 minor A allele increases the risk of DC development by fourteen times (p = 0.010). (4) Conclusions: our findings suggest that CHST6 rs977987, MMP14 rs1042704, and positive family history are associated with the previous onset of Dupuytren’s contracture. In addition, the combination of the MMP14 minor A allele and additional risk factors increase the likelihood of the manifestation of the DC.
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spelling pubmed-91418532022-05-28 The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture Samulenas, Gediminas Insodaite, Ruta Kunceviciene, Edita Poceviciute, Roberta Masionyte, Lorena Zitkeviciute, Urte Pilipaityte, Loreta Smalinskiene, Alina Genes (Basel) Article (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 MMP8, MMP14, and CHST6 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 (MMP8 rs11225395, MMP14 rs1042704, and CHST6 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 CHST6 rs977987 minor T allele (p = 0.036) and the MMP14 rs1042704 mutant AA genotype (p = 0.024). Significant associations with the previous onset of the disease were also observed with a positive family history of the DC (p = 0.035). Moreover, risk factor analysis revealed that a combination of major disease risk factors (smoking and manual labor) and the MMP14 minor A allele increases the risk of DC development by fourteen times (p = 0.010). (4) Conclusions: our findings suggest that CHST6 rs977987, MMP14 rs1042704, and positive family history are associated with the previous onset of Dupuytren’s contracture. In addition, the combination of the MMP14 minor A allele and additional risk factors increase the likelihood of the manifestation of the DC. MDPI 2022-04-23 /pmc/articles/PMC9141853/ /pubmed/35627129 http://dx.doi.org/10.3390/genes13050743 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/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/).
spellingShingle Article
Samulenas, Gediminas
Insodaite, Ruta
Kunceviciene, Edita
Poceviciute, Roberta
Masionyte, Lorena
Zitkeviciute, Urte
Pilipaityte, Loreta
Smalinskiene, Alina
The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture
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 Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141853/
https://www.ncbi.nlm.nih.gov/pubmed/35627129
http://dx.doi.org/10.3390/genes13050743
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