Matrix Metalloproteases 1 and 3 Promoter Gene Polymorphism Is Associated With Rotator Cuff Tear

Assunção, Jorge Henrique; Godoy‐Santos, Alexandre Leme; Santos, Maria Cristina Leme Godoy dos; Malavolta, Eduardo Angeli; Gracitelli, Mauro Emílio Conforto; Neto, Arnaldo Amado Ferreira

doi:10.1007/s11999-017-5271-3

Cited by 34 publications

(44 citation statements)

References 43 publications

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“…Our findings concerning the role of MMP3 variant in shoulder tendinopathy is in part supported by findings in Achilles tendinopathy . In addition, another variant of MMP3 (rs3025058) was previously associated with the risk of RCT . Consequently, our investigation and the previous one reinforce the role of genetic variants of MMP3 in the pathobiology of this shoulder injury.…”

Section: Discussionsupporting

confidence: 88%

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Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Figueiredo

Loyola

Belangero

et al. 2019

Journal Orthopaedic Research

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Rotator cuff tears (RCT) is a multifactorial disease with genetic factors contributing for the disease etiology. We hypothesized that genetic variants in genes involved in extracellular matrix (ECM) homeostasis may alter susceptibility to RCT. We evaluated 20 polymorphisms of genes involved in ECM homeostasis in 211 cases of full‐thickness tears of the supraspinatus (Nfemales = 130; Nmales = 81) and 567 age‐matched controls (Nfemales = 317; Nmales = 250). Multivariate logistic regressions were carried out with age, gender, genetic ancestry (based on the analysis of 61 biallelic short insertion/deletion polymorphisms), and common co‐morbidities (diabetes, dyslipidemia, and smoking habits) as covariates. We observed that carriers of the rare allele of both studied variants of TGFB1, as well as their G/A (rs1800470/rs1800469) haplotype, were less susceptible to RCT (p < 0.05). In contrast, carriers of the G allele of MMP9 rs17576 (p = 0.014) or G/G haplotype (rs17576/rs17577; p < 0.001) had an increased risk for tendon tears. The presence of the T allele of MMP2 rs2285053 (p = 0.033), the T allele of MMP3 rs679620 (p = 0.024), and the TT‐genotype of TIMP2 rs2277698 (p = 0.01) was associated with susceptibility to tears, especially in females. In males, the A allele of COL5A1 rs3196378 (p = 0.032) and the G allele of TGFBR1 rs1590 (p = 0.039) were independent risk factors for RCT. The C/T COL5A1 (rs3196378/rs11103544) haplotype was associated with a reduced risk of tears in males (p = 0.03). In conclusion, we identified the genetic variants associated with RCT susceptibility, thereby reinforcing the role of genes involved in the structure and homeostasis of the ECM of tendons in disease development. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:192–201, 2020

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Section: Discussionsupporting

confidence: 88%

“…SNPs have been associated with the predisposition to multifactorial diseases, including RCT . Specifically, SNPs in ESRRB , SAP30BP, SASH1 , TNC , MMP1, MMP3 , DEFB1, FGF3, FGF10 , and FGFR1 have previously been shown to be associated with the risk of RCT.…”

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confidence: 99%

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Figueiredo

Loyola

Belangero

et al. 2019

Journal Orthopaedic Research

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“…In another publication performed in a Brazilian population, 64 patients with RCI were evaluated and the association with genetic polymorphisms of MMP-1 and MMP-3 metalloproteinases were evaluated. 26 Sejersen et al, 27 in a systematic review, identified 2,199 protein analysis studies in tendinopathies and verified a tendency to increase COL1, COL3, MMP1, MMP9, MMP13, TIMP1, VEGF expression and decrease in MMP3. Chung et al 28 found increased expression of MMP9 and IL6 genes in diabetics.…”

Section: Rotator Cuff Injurymentioning

confidence: 99%

Aspectos genéticos nas afecções do ombro

Cohen

Figueiredo

Belangero

et al. 2020

Rev Bras Ortop (Sao Paulo)

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ResumoA influência da herança genética tem sido cada vez mais investigada nas afecções do ombro, como a lesão do manguito rotador, instabilidade e ombro congelado. Ainda que os achados iniciais sejam pouco esclarecedores, é necessário construir progressivamente um banco de marcadores genéticos para catalogar perfis genômicos que, mais adiante, poderão contribuir para a previsão do risco da doença, desenvolvimento de melhores ferramentas de diagnóstico e tratamento. O presente artigo busca atualizar o que há de evidências de estudos genéticos na literatura para essas doenças, desde análises de polimorfismos, expressão de genes candidatos em tecidos e estudos de associação genômica ampla (GWAS, na sigla em inglês). Porém, é necessário apontar que existe grande dificuldade na replicação e utilização dos achados, principalmente em razão da falta de poder estatístico, da alta taxa de resultados falso-positivos e da grande quantidade de variáveis envolvidas.

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“…Given this background, the response to PRP treatment in relation to genetic variation can be explored using a gene-candidate approach. For example, rotator cuff tears are associated with enzymes involved in collagen degradation, including matrix metalloproteinase (MMP)1 and 3; in particular, polymorphisms associated with rotator cuff disease were identified in their gene promoter regions [ 18 ]. Other candidate genes also involved in the integrity of extracellular matrix, including tenascin (TNC) and Col5A1, show an association with tendinopathy in specific cohorts [ 19 , 20 ].…”

Section: The Need Of Patient Stratificationmentioning

confidence: 99%

Some patients (and some of us) respond better to some biological therapies: the as yet unsolved conundrum

Andı́a

Maffulli

2018

J Orthop Traumatol

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Very often, treatment for many common musculoskeletal conditions is only palliative, or involves surgery with major shortcomings. Biological interventions—in particular, platelet-rich plasma (PRP) therapies—may well provide more effective treatments, but their actual efficacy is under scrutiny. PRP is biologically unique to each individual depending on endogenous and exogenous factors, including, but not limited to, demographic factors (i.e. age), immune status (i.e. microbiota), metabolic diseases and concomitant medications. All these potential modifiers of the ultimate effects of PRP have been poorly explored, and their relationship with efficacy has not been established.

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Matrix Metalloproteases 1 and 3 Promoter Gene Polymorphism Is Associated With Rotator Cuff Tear

Abstract: Knowledge of the genetic markers related to rotator cuff tears can enable identification of susceptible individuals and increase understanding of the pathogenesis of tendon degeneration.

Cited by 34 publications

References 43 publications

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Aspectos genéticos nas afecções do ombro

Some patients (and some of us) respond better to some biological therapies: the as yet unsolved conundrum

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