Evidence of genetic variations associated with rotator cuff disease

Filho, Geraldo da Rocha Motta; Amaral, Marcus Vinícius Galvão; Rezende, Eduardo; Pitta, Rafael; Vieira, Thays Cristine dos Santos; Duarte, Maria Eugênia Leite; Vieira, Alexandre R.; Casado, Priscila Ladeira

doi:10.1016/j.jse.2013.07.053

Cited by 79 publications

(81 citation statements)

References 40 publications

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“…After quality control, 272,641 potential markers were available for analysis. The set of analyzed markers was reduced to the 69 SNPs that fell within 20 kb (human genome build 36) of the 6 candidate genes proposed by Motta et al 20 Eight of the 69 SNPs that were testable for association were identical to SNPs selected in the previous candidate gene search conducted by Motta et al, 20 with at least 1 identical SNP occurring in each of the 6 candidate genes.…”

Section: Quality Controlmentioning

confidence: 99%

“…8,9 Furthermore, various genetically controlled biological mechanisms have been recognized to contribute to rotator cuff disease and similar tendinopathies, including apoptosis and factors that influence the regulation of the extracellular matrix. [12][13][14][15][16]30 Motta et al 20 recently tested 23 single nucleotide polymorphisms (SNPs) from 6 candidate genes involved in the repair and degenerative processes of musculoskeletal tissue (DEFB1, DENND2C, ESRRB, FGF3, FGF10, and FGFR1) for a potential association with rotator cuff disease. The authors identified 1 significant SNP after correcting for multiple testing (Bonferroni correction threshold is P < .05/23 ¼ .002).…”

mentioning

confidence: 99%

“…The purpose of this study was to evaluate the association between 6 candidate genes, previously investigated by Motta et al, 20 and rotator cuff tearing in a set of 167 individuals with rotator cuff disease and 2595 genetically matched publicly available controls with dense SNP genotype data.…”

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confidence: 99%

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Significant association of full-thickness rotator cuff tears and estrogen-related receptor-β (ESRRB)

Teerlink

Cannon‐Albright

Tashjian

2015

Journal of Shoulder and Elbow Surgery

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Section: Quality Controlmentioning

confidence: 99%

mentioning

confidence: 99%

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Significant association of full-thickness rotator cuff tears and estrogen-related receptor-β (ESRRB)

Teerlink

Cannon‐Albright

Tashjian

2015

Journal of Shoulder and Elbow Surgery

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“…One of these studies (n = 203) found a significant association of certain haplotypes in DEFB1 , FGFR1 , FGFR3 , and ESRRB with rotator cuff disease (Table II) 17 . After adjusting for ethnic group and sex, another association was found for FGF10 (Table II).…”

Section: Resultsmentioning

confidence: 99%

“…Rotator cuff disease is a common disorder and affects 30–50% of the population older than 50 years of age 17 . It includes a spectrum of pathology ranging from tendinopathy to partial or complete tears 19 .…”

mentioning

confidence: 99%

Genetic and familial predisposition to rotator cuff disease: a systematic review

Dabija

Gao

Edwards

et al. 2017

Journal of Shoulder and Elbow Surgery

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Background Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and likely extends beyond repetitive micro-trauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. Methods A literature search of PubMed and EMBASE databases identified 251 citations. After reviewing the titles, abstracts, and full articles, seven met our inclusion/exclusion criteria. Results Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A five-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears. The other three studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGFR3, ESRRB, and FGF10, and two single nucleotide polymorphisms within SAP30BP and SASH1. Conclusion Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions. Level of Evidence Systematic Review

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Candidate gene approach identifies six SNPs in tenascin‐C (TNC) associated with degenerative rotator cuff tears

Kluger

Burgstaller

Vogl

et al. 2016

Journal Orthopaedic Research

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Evidence for a heritable predisposition to rotator cuff tears (RCTs) is growing. Unrelated Caucasian individuals with surgically diagnosed full thickness RCTs (cases) and elderly Caucasian controls with intact rotator cuffs were screened for differences at the candidate genes: TNC, Col5A1, TIMP-1, MMP-1, MMP-2, MMP-3, MMP-9, and MMP-13. A first cohort (59 cases; 32 controls) was genotyped with the Sequenom MassARRAY iPLEX system. Of 142 SNPs within about 67-kbp of the TNC gene, 30 were tested for differences in proportions between cases and controls. A second, matched cohort (96 patients; 44 controls) was also genotyped for the same 30 SNPs, but with the KASP™ genotyping technology. Combining the two cohorts and after Bonferroni correction, six SNPs were significantly associated with RCT. Compared to controls, RCT patients showed a significantly higher rate of homozygosity at rs72758637, rs7021589, and rs1138545; a significantly higher rate of heterozygosity at rs10759753, rs3789870, and rs7035322 and a higher minor allele frequency at rs3789870. Rs1138545, a missense SNP in exon10 might be of biological significance because it varies the amino acid sequence close to the TNC-FNIII5 domain. The FNIII5 domain binds multiple growth factors and co-ligates with integrins during tendon healing. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:894-901, 2017.

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Evidence of genetic variations associated with rotator cuff disease

Cited by 79 publications

References 40 publications

Significant association of full-thickness rotator cuff tears and estrogen-related receptor-β (ESRRB)

Significant association of full-thickness rotator cuff tears and estrogen-related receptor-β (ESRRB)

Genetic and familial predisposition to rotator cuff disease: a systematic review

Candidate gene approach identifies six SNPs in tenascin‐C (TNC) associated with degenerative rotator cuff tears

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