Association of estrogen receptor β polymorphisms with posterior tibial tendon dysfunction

Mol Cell Biochem. 2020 Aug;471(1-2):63-69. doi: 10.1007/s11010-020-03765-z. Epub 2020 May 30.


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-β) 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-β 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-β SNP rs1256049 did not show differences in the frequencies of alleles and genotypes between groups. The ER-β SNP rs4986938, but not ER -β 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.

Keywords: Estrogen receptor; Genetic polymorphism; Risk factor; Tendinopathy.

MeSH terms

  • Adult
  • Alleles
  • Case-Control Studies
  • Cross-Sectional Studies
  • Estrogen Receptor beta / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Posterior Tibial Tendon Dysfunction / genetics*
  • Posterior Tibial Tendon Dysfunction / pathology
  • Postmenopause
  • Tendinopathy / genetics*
  • Tendinopathy / pathology


  • ESR2 protein, human
  • Estrogen Receptor beta