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

Teerlink, Craig C.; Cannon‐Albright, Lisa A.; Tashjian, Robert Z.

doi:10.1016/j.jse.2014.06.052

Cited by 51 publications

(64 citation statements)

References 29 publications

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“…After adjusting for ethnic group and sex, another association was found for FGF10 (Table II). A second study (n = 175) discovered two haplotypes in ESRRB that significantly increased the risk of tears (Table II) 32 . The third study (n = 311) found two single nucleotide polymorphisms (SNPs) within genes SAP30BP and SASH1 associated with rotator cuff tears (Table II) 30 .…”

Section: Resultsmentioning

confidence: 99%

“…All of the studies had a clearly stated aim, prospective collection of data, end points appropriate to the aim of the study, loss to follow-up <5%, and contemporary groups. Six studies included consecutive patients 6, 7, 17, 29, 30, 32 , two stated they had unbiased assessments of study end points 6, 7 , one had a prospective calculation of the study size 17 , three had adequate control groups 6, 7, 29 , five had baseline equivalence of groups 6, 7, 17, 29, 31 , and five had adequate statistical analyses 7, 17, 29, 30, 32 . The lowest score was 16 31 , and the highest was 22 7 .…”

Section: Resultsmentioning

confidence: 99%

“…Even in studies limited to rotator cuff tears, the case definition is variable. One study used clinical diagnosis 29 by a physician as their criterion, whereas other studies used ultrasound 6, 7 and MRI 17, 30–32 for diagnosis. One of the studies used a criterion of whether the patient underwent a surgical rotator cuff repair 29 .…”

Section: Discussionmentioning

confidence: 99%

“…The genetic association studies observed associations between rotator cuff disease and SNPs in seven candidate genes (Table III, Figure 2, Figure 3) 17, 30, 32 . DEFB1 (Defensin, Beta 1) encodes the protein antimicrobial peptide defensin β-1, which aids in preventing epithelial surfaces from being colonized by microbes.…”

Section: Discussionmentioning

confidence: 99%

“…A few studies on familial and genetic predisposition to rotator cuff disease have used controls from the general population, and have used cases and controls genotyped on different platforms in different experiments 30–32 . This is problematic since these studies assume that the prevalence of rotator cuff disease in the general population is low.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

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

Cited by 51 publications

References 29 publications

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

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

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

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