Association of estrogen receptor beta polymorphisms with posterior tibial tendon dysfunction.

MedStar author(s):
Citation: Molecular & Cellular Biochemistry. 471(1-2):63-69, 2020 Aug.PMID: 32472323Institution: MedStar Union Memorial HospitalDepartment: Orthopaedic SurgeryForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: *Estrogen Receptor beta/ge [Genetics] | *Posterior Tibial Tendon Dysfunction/ge [Genetics] | *Tendinopathy/ge [Genetics] | Adult | Alleles | Case-Control Studies | Cross-Sectional Studies | Female | Gene Frequency | Genetic Predisposition to Disease | Humans | Male | Middle Aged | Polymorphism, Restriction Fragment Length | Polymorphism, Single Nucleotide | Posterior Tibial Tendon Dysfunction/pa [Pathology] | Postmenopause | Tendinopathy/pa [Pathology]Year: 2020ISSN:
  • 0300-8177
Name of journal: Molecular and cellular biochemistryAbstract: Posterior tibial tendon (PTT) dysfunction is three times more common in females, and some patients may have a predisposition without a clinically evident cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated the association of rs4986938 (+ 1730G > A; AluI RFLP) and rs1256049 (- 1082G > A; RsaI RFLP) single nucleotide polymorphisms (SNPs) of estrogen receptor-beta (ER-beta) gene with PTT dysfunction. A total of 400 participants were recruited. The PTT dysfunction group: these patients underwent surgery, with PTT tendinopathy confirmed by histopathology and magnetic resonance image (MRI). The control group was composed of participants with no clinical or MRI evidence of PTT dysfunction. Each group was composed of 100 postmenopausal women, 50 premenopausal women, and 50 men. Genomic DNA was extracted from saliva samples, and genotypes were obtained by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Concerning the ER-beta SNP rs4986938, there were significant differences in the frequencies of alleles between test and control groups of all the cases, only postmenopausal women and only men (p < 0.0001, p = 0.0016 and p = 0.0001). Considering the PTT dysfunction group and comparing postmenopausal women versus premenopausal women adding men, the analysis showed significant differences in the allelic distribution (p = 0.0450): the allele A in postmenopausal women is a risk factor. The ER-beta SNP rs1256049 did not show differences in the frequencies of alleles and genotypes between groups. The ER-beta SNP rs4986938, but not ER -beta SNPs rs1256049, may contribute to PTT insufficiency in the Brazilian population, with additional risk in postmenopausal women. Addition, in men the genetic factor could be more determinant.All authors: Baracat EC, Carvalho KC, Cesar-Netto C, Fonseca FCP, Godoy-Santos AL, Maffulli N, Nogara PRB, Pontin PA, Santos MCLOriginally published: Molecular & Cellular Biochemistry. 471(1-2):63-69, 2020 Aug.Fiscal year: FY2021Digital Object Identifier: Date added to catalog: 2020-08-26
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Journal Article MedStar Authors Catalog Article 32472323 Available 32472323

Posterior tibial tendon (PTT) dysfunction is three times more common in females, and some patients may have a predisposition without a clinically evident cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated the association of rs4986938 (+ 1730G > A; AluI RFLP) and rs1256049 (- 1082G > A; RsaI RFLP) single nucleotide polymorphisms (SNPs) of estrogen receptor-beta (ER-beta) gene with PTT dysfunction. A total of 400 participants were recruited. The PTT dysfunction group: these patients underwent surgery, with PTT tendinopathy confirmed by histopathology and magnetic resonance image (MRI). The control group was composed of participants with no clinical or MRI evidence of PTT dysfunction. Each group was composed of 100 postmenopausal women, 50 premenopausal women, and 50 men. Genomic DNA was extracted from saliva samples, and genotypes were obtained by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Concerning the ER-beta SNP rs4986938, there were significant differences in the frequencies of alleles between test and control groups of all the cases, only postmenopausal women and only men (p < 0.0001, p = 0.0016 and p = 0.0001). Considering the PTT dysfunction group and comparing postmenopausal women versus premenopausal women adding men, the analysis showed significant differences in the allelic distribution (p = 0.0450): the allele A in postmenopausal women is a risk factor. The ER-beta SNP rs1256049 did not show differences in the frequencies of alleles and genotypes between groups. The ER-beta SNP rs4986938, but not ER -beta SNPs rs1256049, may contribute to PTT insufficiency in the Brazilian population, with additional risk in postmenopausal women. Addition, in men the genetic factor could be more determinant.

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