BMP4 and FGF3 haplotypes increase the risk of tendinopathy in volleyball athletes

Salles, José Inácio; Amaral, Marcus Vinícius Galvão; Aguiar, Diego Pinheiro; Lira, Daisy Anne; Quinelato, Valquiria; Bonato, Letícia Ladeira; Duarte, Maria Eugênia Leite; Vieira, Alexandre R.; Casado, Priscila Ladeira

doi:10.1016/j.jsams.2014.02.011

Cited by 24 publications

(55 citation statements)

References 29 publications

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“…Tendinopathy is a common degenerative musculoskeletal disorder and is related to structural tissue changes, such as increased type III collagen content [23], which may adversely influence the mechanical and material properties of the tendon [24]. Recently, genetic variables have been suggested as intrinsic risk factors for tendinopathy in athletes [5, 7, 25, 26]. The genetic study applied to sport may suggest that specific measures targeted at athletes most likely to develop lesions, can be appropriate to reduce the risk of damage by controlling the training load and the exposure frequency in high mechanical stress actions on the joints.…”

Section: Discussionmentioning

confidence: 99%

“…Eighty-eight athletes with tendinopathy in patellar (n = 53, 60.2%), shoulder (n = 21, 23.9%) and Achilles (n = 14, 15.9%) confirmed with magnetic resonance image examination of the affected tendon were enrolled as cases. According to our previous report [7], the clinical diagnostic criteria for chronic tendinopathy were (i) progressive pain related to training in the last 6 months and during clinical examination; and at least one of the following criteria: (ii) palpable nodular thickening over the tendon; (iii) tenderness on tendon palpation; (iv) history of swelling over the tendon area. Controls (n = 91) were athletes without history of tendinopathy in any joint and who reported no previous diagnosis of tendinopathy.…”

Section: Methodsmentioning

confidence: 99%

“…Genomic DNA was obtained from saliva samples as previously described [7]. A validated TaqMan assay (VIC- and FAM-labeled) for detection of each VEGF -2578C>A (rs699947), -460T>C (rs833061), + 936C>T (rs3025039) and KDR -604C>T (rs2071559), 1192G>A (rs2305948) and 1719T>A (rs1870377) SNPs was purchased from Applied Biosystems.…”

Section: Methodsmentioning

confidence: 99%

“…The major concerns of chronic tendon injuries for athletes are: their need to remain away from training due to injury, their quality of life and professional performance, and health care expenditure [2]. The etiology of tendinopathy is regarded as being unclear, despite genetic [3–7] and extrinsic factors that may contribute to the phenotype [1]. Many studies have shown an increase in angiogenesis in degenerative tendons [8, 9].…”

Section: Introductionmentioning

confidence: 99%

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Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

et al. 2016

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The aim of the study was to investigate whether genetic variants in VEGF and KDR genes can be correlated with susceptibility of tendinopathy in volleyball athletes. This study was conducted at the Brazilian Volleyball Federation, and comprised 179 volleyball athletes: 88 had a confirmed diagnosis of tendinopathy (cases), whereas 91 had no evidence of the disease (controls). The VEGF (-2578C>A, -460T>C and +936C>T) and KDR (-604C>T, 1192G>A and 1719T>A) polymorphisms were determined by TaqMan real-time polymerase chain reaction. The odds ratio (OR) with their 95% confidence intervals (CI) were calculated using an unconditional logistic regression model. The evaluation of demographic and clinical characteristics revealed the athlete age (P < 0.001), years of practice in volleyball (P < 0.001) and presence of pain (P = 0.001) were risk factors for tendinopathy. KDR 1192 GA and GA + AA genotypes were associated with lower risk of tendinopathy (OR: 0.41, 95% CI: 0.19–0.88 and OR: 0.47, 95% CI: 0.23–0.98, respectively). The KDR (-604C>T, 1192G>A and 1719T>A) haplotypes CGA and CAT were associated with decreased tendinopathy risk (OR: 0.46, 95% CI: 0.21–0.99 and OR: 0.23, 95% CI: 0.07–0.76, respectively). With regards to pain, traumatic lesion and away from training due to injury, VEGF and KDR polymorphisms were not associated with clinical symptoms complaints. The present results provide evidence that the KDR polymorphisms were associated with development of tendinopathy, and can contribute to identify new therapeutic targets or personalized training programs to avoid tendinopathy development in athletes.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

et al. 2016

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“…Some studies have already reported on the influence of genetic polymorphisms in tendinopathy, including PTT dysfunction . Although MMPs are important for the degradation and remodeling of the tendon, there are only limited data suggesting an association of the MMP polymorphism with tendinopathy …”

Section: Introductionmentioning

confidence: 99%

Posterior tibial tendinopathy associated with matrix metalloproteinase 13 promoter genotype and haplotype

et al. 2016

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Background Posterior tibial tendon (PTT) is particularly vulnerable and its insufficiency is recognized as the main cause of adult acquired flat foot. Some patients have a predisposition without a clinically recognized cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated whether genetic variants in matrix metalloproteinases (MMPs) are associated with PTT dysfunction. Methods One hundred women who presented PTT dysfunction, with histopathological examination of the tendon and magnetic resonance imaging (MRI) confirming tendinopathy, as well as 100 asymptomatic women who presented intact PPT as assessed by MRI and constituting the control group, were evaluated for MMP‐13 g.‐77 A > G (rs2252070) polymorphism, individually and in haplotypes, as well as in combination with MMP‐1 g.‐519 A > G (rs1144393), MMP‐1 g.‐1607 G > GG (rs1799750) and MMP‐8 g.‐799 C > T (rs11225395) polymorphisms with PTT dysfunction. Genomic DNA was extracted from the saliva and genotypes were obtained by polymerase chain reaction‐restriction fragment length polymorphism. Statistical analysis of the results included a Mann–Whitney U‐test, Fisher's exact test, multiple logistic regression, chi‐squared and SNPstats software (http://bioinfo. http://iconcologia.net/snpstats/start.htm). p < 0.05 was considered statistically significant. Results The A allele frequency (MMP‐13 g.‐77 A > G (rs2252070) polymorphism) was significantly higher in the case group (76% and 61%, respectively; p = 0.010, odds ratio = 2.02; 95% confidence interval = 1.32–3.12). The genotype distribution was also significantly different between groups (p = 0.001, odds ratio = 2.82; 95% confidence interval = 1.58–5.02). Global haplotype analysis indicated a significant difference between both groups. Conclusions In conclusion, these findings indicate that MMP‐13 g.‐77 A > G (rs2252070) polymorphism individually, as well as its haplotypes MMP‐1 g.‐519 A > G (rs1144393), MMP‐1 g.‐1607 G > GG (rs1799750) and MMP‐8 g.‐799 C > T (rs11225395), may contribute to PTT dysfunction.

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Factors associated with genetic markers for rotator cuff disease in patients with atraumatic rotator cuff tears

Yanik,

Saccone,

Aleem

et al. 2023

Journal Orthopaedic Research

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For atraumatic rotator cuff tears, genetics contributes to symptomatic tear risk and may influence rotator cuff healing after surgical repair. But little is known about how genetic factors influence rotator cuff tear patient characteristics at presentation. We collected saliva samples for genotyping from atraumatic rotator cuff tear patients. We examined nine single nucleotide polymorphisms (SNPs) associated with cuff tears in prior literature. We estimated associations of SNP dosage with (1) age at tear diagnosis, (2) bilateral atraumatic tear prevalence, and (3) tear size. Linear regression was used to estimate associations with diagnosis age adjusted for sex and principal components. Logistic regression and ordinal logistic regression were used to estimate associations with bilateral tear prevalence and tear size category, respectively, adjusting for age, sex, and principal components. Of 344 eligible patients, 336 provided sufficient samples for genotyping. Median age at tear diagnosis was 61, 22% (N = 74) had bilateral atraumatic tears, and 9% (N = 29) had massive tears. SNP rs13107325 in the SLC39A8 gene and rs11850957 in the STXBP6 gene were associated with younger diagnosis age even after accounting for multiple comparisons (rs13107325: −4 years, 95% CI = −6.5, −1.4; rs11850957: −2.7 years, 95% CI = −4.3, −1.1). No other significant associations were observed with diagnosis age, tear size, or bilateral tear prevalence. SLC39A8 encodes a Mn transporter. STXBP6 may play a role in inflammatory responses by altering phagocytosis and antigen presentation of monocytes and macrophages. Further research is needed to determine if genetic markers can be used alongside patient characteristics to aid in identifying optimal surgical repair candidates.

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BMP4 and FGF3 haplotypes increase the risk of tendinopathy in volleyball athletes

Cited by 24 publications

References 29 publications

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

Posterior tibial tendinopathy associated with matrix metalloproteinase 13 promoter genotype and haplotype

Factors associated with genetic markers for rotator cuff disease in patients with atraumatic rotator cuff tears

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