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Association of estrogen receptor β polymorphisms with posterior tibial tendon dysfunction
P R B Nogara1, A L Godoy-Santos2, F C P Fonseca2
1Department of Cell Biology, University Federal of Paraná, Curitiba, PR, Brazil.
Molecular and Cellular Biochemistry
|May 31, 2020
Summary
Posterior tibial tendon dysfunction risk is linked to a specific estrogen receptor-beta gene variant (rs4986938). This genetic factor, particularly the
Area of Science:
- Genetics and Molecular Biology
- Orthopedics and Sports Medicine
Background:
- Posterior tibial tendon (PTT) dysfunction is more prevalent in females and may have an underlying genetic predisposition.
- Individual characteristics, including genetic factors, likely play a significant role in the development of tendinopathy.
Purpose of the Study:
- To investigate the association between two single nucleotide polymorphisms (SNPs) of the estrogen receptor-beta (ER-β) gene (rs4986938 and rs1256049) and PTT dysfunction.
- To determine if specific genetic variations in the ER-β gene contribute to PTT insufficiency in a Brazilian population.
Main Methods:
- Recruitment of 400 participants, including patients with confirmed PTT dysfunction and a control group.
- Genotyping of ER-β SNPs rs4986938 and rs1256049 using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) on DNA extracted from saliva samples.
- Statistical analysis of allele and genotype frequencies between PTT dysfunction and control groups, stratified by menopausal status and sex.
Main Results:
- Significant differences in allele frequencies for ER-β SNP rs4986938 were observed between test and control groups in all cases, postmenopausal women, and men.
- The allele A of ER-β SNP rs4986938 was identified as a risk factor for PTT dysfunction in postmenopausal women.
- No significant differences in allele or genotype frequencies were found for ER-β SNP rs1256049 between the groups.
- Genetic factors may be more determinant in PTT dysfunction in men.
Conclusions:
- The ER-β gene SNP rs4986938, but not rs1256049, may contribute to PTT dysfunction in the Brazilian population.
- Postmenopausal women carrying the 'A' allele of rs4986938 have an increased risk of PTT dysfunction.
- Genetic predisposition, particularly involving ER-β SNP rs4986938, plays a role in PTT dysfunction, with varying impact across different demographic groups.
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