Evaluating the clinical relevance of codon 594 (g>a) polymorphism of estrogen receptor alpha in knee osteoarthritis
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Updated: Apr 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
T Tawonsawatruk1, P Mulpruek1, Df Hamilton1
1Department of Orthopaedics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Unlabelled:
It has been reported that oestrogen receptor alpha (ER-α) polymorphisms are associated with knee osteoarthritis (OA). In this study, we assessed whether there was any association between the codon 594 (G>A) polymorphism in ER-α and radiographic features of OA or patient function. Radiographs, WOMAC score and patient reported time of symptom onset were assessed in 194 patients presenting for total knee replacement at Ramathibodi hospital over a one year period. ESR-1 genotyping was assessed. There were 107 (55.15%) patients with common homozygote (GG), 78 (40.20%) patients with heterozygote (GA) and nine (4.65%) patients with rare homozygote (AA). There was poor correlation (r = <0.2) between group difference in the radiographic parameters, time of onset of symptom , or in WOMAC scores. This polymorphism is not associated with the clinical features of knee osteoarthritis. The role of this polymorphism is unlikely then to be used as a biological marker predicting the progression of knee OA.
Key Words:
Oestrogen receptor alpha polymorphism, Knee osteoarthritis, Radiographic feature, Functional score.
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