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BioMed Research International
Volume 2014 (2014), Article ID 151457, 12 pages
Research Article

Association of Single Nucleotide Polymorphisms in Estrogen Receptor Alpha Gene with Susceptibility to Knee Osteoarthritis: A Case-Control Study in a Chinese Han Population

1The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Zhongshan Road 321, Nanjing, Jiangsu 210008, China
2Joint Research Center for Bone and Joint Disease, Model Animal Research Center (MARC), Nanjing University, Nanjing, Jiangsu 210093, China

Received 18 November 2013; Revised 7 February 2014; Accepted 14 February 2014; Published 17 March 2014

Academic Editor: Wei Chiao Chang

Copyright © 2014 Xiaoyu Dai et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Osteoarthritis (OA) is the most prevalent form of arthritis and its multifactorial nature has been increasingly recognized. Genetic factors play an important role in OA etiology and estrogen receptor alpha (ESR1) gene polymorphisms may be involved. This study tried to explore whether the ESR1 gene single nucleotide polymorphisms (SNPs) were associated with primary knee OA in the Chinese Han population. Two SNPs, rs2234693 and rs9340799, were genotyped in 469 cases and 522 controls. Rs2234693 was associated with knee OA in the dominant genetic model (TT + TC versus CC) and a higher T allele frequency existed among females. The combined genotype (TT + TC) and T allele were related with mild knee OA only. For rs9340799, A allele was associated with knee OA in all subjects and females . Statistical differences were detected in the dominant genetic model (AA + AG versus GG) among females . The combined genotype (AA + AG) and A allele were merely correlated with mild knee OA. ESR1 gene is considerably associated with knee OA etiology in the Chinese Han population.