MMP-1, MMP-8, and MMP-13 Gene Polymorphisms and Haplotype Is a Risk Factor for Dupuytren Contracture: A Case-Control Study.

Autor:	Rodrigues MP; Department of Orthopaedics, Foot and Ankle Service, University of São Paulo, Brazil., Tissi LH; Department of Cell Biology, University Federal of Paraná, Centro Politécnico, Curitiba, Brazil., Oliveira VM; Department of Cell Biology, University Federal of Paraná, Centro Politécnico, Curitiba, Brazil., Wistuba GASM; Department of Cell Biology, University Federal of Paraná, Centro Politécnico, Curitiba, Brazil., Araujo FB; Laboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba, Brazil., Mattar-Júnior R; Department of Orthopaedics, Foot and Ankle Service, University of São Paulo, Brazil., Rezende MR; Department of Orthopaedics, Foot and Ankle Service, University of São Paulo, Brazil., Wei TH; Department of Orthopaedics, Foot and Ankle Service, University of São Paulo, Brazil., Godoy-Santos AL; Department of Orthopaedics, Foot and Ankle Service, University of São Paulo, Brazil., Santos MCLG; Department of Cell Biology, University Federal of Paraná, Centro Politécnico, Curitiba, Brazil.
Jazyk:	angličtina
Zdroj:	Hand (New York, N.Y.) [Hand (N Y)] 2024 Apr 25, pp. 15589447241242818. Date of Electronic Publication: 2024 Apr 25.
DOI:	10.1177/15589447241242818
Abstrakt:	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. Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu