| Author | Rodrigues, Mauricio P. | |
| Author | Tissi, Larissa H. | |
| Author | Oliveira, Vinicius M. | |
| Author | Wistuba, Guilherme A. S. M. | |
| Author | Araujo, Francielle B. | |
| Author | Mattar-Júnior, Rames | |
| Author | Rezende, Marcelo R. | |
| Author | Wei, Teng H. | |
| Author | Godoy-Santos, Alexandre L. | |
| Author | Santos, Maria Cristina L. G. | |
| Access date | 2025-05-04T20:22:00Z | |
| Available date | 2025-05-04T20:22:00Z | |
| Document date | 2024 | |
| Citation | RODRIGUES, Mauricio P. et al. MMP-1, MMP-8, and MMP-13 gene polymorphisms and haplotype is a risk factor for dupuytren contracture: a case-control study. Hand, v. 0, n. 0, p. 1-6, 2024. | en_US |
| ISSN | 1558-9447 | en_US |
| URI | https://www.arca.fiocruz.br/handle/icict/70118 | |
| Language | eng | en_US |
| Publisher | American Association for Hand Surgery / Sage Journals | en_US |
| Rights | closed access | en_US |
| Subject in Portuguese | Fator de risco | en_US |
| Subject in Portuguese | Polimorfismo genético | en_US |
| Subject in Portuguese | Haplótipo | en_US |
| Subject in Portuguese | Contratura de Dupuytren | en_US |
| Subject in Portuguese | Metaloproteinases da Matriz | en_US |
| Title | MMP-1, MMP-8, and MMP-13 Gene polymorphisms and haplotype is a risk factor for Dupuytren Contracture: a case-control study | en_US |
| Type | Article | en_US |
| DOI | 10.1177/15589447241242818 | |
| Abstract | Background: There is an increased tissue expression of matrix metalloproteinases (MMPs) on Dupuytren contracture (DC). Genetic polymorphisms (single nucleotide polymorphism [SNPs]) in genes of these enzymes may individually influence these transcriptions. Haplotype analysis, which is the observation of a group of alleles, could be more useful to identify the association between SNPs and DC. The purpose of this study was to evaluate the influence of MMP-1 g.-1607 G>GG (rs1799750), MMP-8 g.-799 C>T (rs11225395), and MMP-13 g.-77 A>G (rs2252070) SNPs individually and in haplotype on DC. Methods: A total of 60 patients with a clinical diagnosis of DC were evaluated and matched, according to age and gender, with the control group of 100 patients without this clinical diagnosis. Genomic DNA was extracted from saliva samples, and genotypes were obtained by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis of the results included Mann-Whitney U test, Chi-squared test, and PHASE and R software, with a significance level of 5%. Results: The 3 SNPs studied showed significant differences in allele and genotype frequencies between the groups: 2G in MMP-1 (P = .018; odds ratio [OR] 1.80 (95% confidence interval [CI], 1.13-2.88)), T in MMP-8 (P = .015; OR 0.53 (95% CI, 0.33-0.88)), and A in MMP-13 (rs2252070) SNPs (P = .040, OR 0.54 (95% CI, 0.33-0.90)) are risk alleles. The global haplotype analysis indicated a significant difference between both groups. Conclusions: In conclusion, MMP-1 g.-1607 G>GG (rs1799750), MMP-8 g.-799 C>T (rs11225395), and MMP-13 g.-77 A>G (rs2252070) SNPs, individually and in haplotype, are a risk factor for DC, indicating that these SNPs may be a potential diagnostic and prognostic factor for DC. | en_US |
| Affilliation | University of São Paulo. Department of Orthopaedics. Foot and Ankle Service. SP, Brasil. | en_US |
| Affilliation | University Federal of Paraná. Centro Politécnico. Department of Cell Biology. Curitiba, PR, Brasil. | en_US |
| Affilliation | University Federal of Paraná. Centro Politécnico. Department of Cell Biology. Curitiba, PR, Brasil. | en_US |
| Affilliation | University Federal of Paraná. Centro Politécnico. Department of Cell Biology. Curitiba, PR, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciências e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil. | en_US |
| Affilliation | University of São Paulo. Department of Orthopaedics. Foot and Ankle Service. SP, Brasil. | en_US |
| Affilliation | University of São Paulo. Department of Orthopaedics. Foot and Ankle Service. SP, Brasil. | en_US |
| Affilliation | University of São Paulo. Department of Orthopaedics. Foot and Ankle Service. SP, Brasil. | en_US |
| Affilliation | University of São Paulo. Department of Orthopaedics. Foot and Ankle Service. SP, Brasil. | en_US |
| Affilliation | University Federal of Paraná. Centro Politécnico. Department of Cell Biology. Curitiba, PR, Brasil. | en_US |
| Subject | Dupuytren contracture | en_US |
| Subject | Matrix metalloproteinases | en_US |
| Subject | Genetic polymorphism | en_US |
| Subject | Haplotype | en_US |
| Subject | Risk factor | en_US |
| DeCS | Contratura de Dupuytren | en_US |
| DeCS | Metaloproteinases da Matriz | en_US |
| Embargo date | 2054 | |
