ERα PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study

Autor: Alexandre Leme Godoy-Santos, J Soares Junior, M. C. L. Santos, P. R. B. Nogara, E.C. Baracat, Fabio Correa Fonseca, Túlio Diniz Fernandes, Cesar de Cesar Netto, Katia Candido Carvalho, Nicola Maffulli, Pedro Augusto Pontin
Rok vydání: 2018
Předmět:
Adult
medicine.medical_specialty
lcsh:Diseases of the musculoskeletal system
Population
Single-nucleotide polymorphism
Polymorphism
Single Nucleotide
03 medical and health sciences
0302 clinical medicine
lcsh:Orthopedic surgery
Internal medicine
Genotype
medicine
SNP
Humans
Estrogen receptor
Orthopedics and Sports Medicine
Polymorphism
education
Posterior Tibial Tendon Dysfunction
Genetic Association Studies
education.field_of_study
Genetic polymorphism
Risk factor
Tendinopathy
Case-Control Studies
Cross-Sectional Studies
Estrogen Receptor alpha
Female
Middle Aged
Postmenopause
business.industry
Case-control study
Single Nucleotide
030229 sport sciences
medicine.disease
R1
lcsh:RD701-811
Endocrinology
030220 oncology & carcinogenesis
Surgery
lcsh:RC925-935
Restriction fragment length polymorphism
business
Research Article
Zdroj: Journal of Orthopaedic Surgery and Research
Journal of Orthopaedic Surgery and Research, Vol 13, Iss 1, Pp 1-5 (2018)
ISSN: 1749-799X
Popis: Background Posterior tibial tendon (PTT) insufficiency is considered as the main cause of adult acquired flat foot and is three times more frequent in females. High estrogen levels exert a positive effect on the overall collagen synthesis in tendons. We have previously demonstrated the association between some genetic single-nucleotide polymorphism (SNP) and tendinopathy. In the present study, we investigated the association of PvuII c454-397T>C (NCBI ID: rs2234693) and XbaI c454-351A>G (NCBI ID: rs9340799) SNPs in estrogen receptor alfa (ER-α) gene with PPT dysfunction. Methods A total of 92 female subjects with PTT dysfunction, with histopathological examination of the tendon and magnetic resonance image (MRI) evidence of tendinopathy, were compared to 92 asymptomatic females who presented an intact PPT at MRI for PvuII and XbaI SNPs in the ER-α gene. Genomic DNA was extracted from saliva and genotypes were obtained by polymerase chain reaction restriction fragment length polymorphism. Results The analysis of PvuII SNPs showed no significant differences in the frequency of alleles and genotypes between control and PTT dysfunction groups. The XbaI SNPs in the ER-α gene showed significant differences in the frequency of genotypes between control and test groups (p = 0.01; OR 95% 1.14 (0.55–2.33). Conclusions The XbaI SNP in the ERα gene may contribute to tendinopathy, and the A/A genotype could be a risk factor for PTT tendinopathy in this population. The PvuII SNP studied was not associated with PTT tendinopathy.
Databáze: OpenAIRE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje