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01.12.2015 | Research article | Ausgabe 1/2015 Open Access

BMC Musculoskeletal Disorders 1/2015

Association between polymorphisms in the estrogen receptor alpha gene and osteoarthritis susceptibility: a meta-analysis

BMC Musculoskeletal Disorders > Ausgabe 1/2015
Yan Ren, Bo Tan, Peijing Yan, Yi You, Yanqiao Wu, Yue Wang
Wichtige Hinweise
Yan Ren and Bo Tan contributed equally to this work.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

YR, BT, Y Wu, and Y Wang participated in the conception and design of the study. YR and BT carried out the literature search. YR, BT, and YY carried out the data collection. YR, BT, and PY performed the statistical analysis. Y Wu and Y Wang assessed the quality of the studies. YR and BT wrote the manuscript. Y Wu and Y Wang revised the manuscript. All authors read and approved the final manuscript.



Osteoarthritis (OA) is a common chronic disease of the joints. Genetic factors may play a role in its development, and polymorphisms in the estrogen receptor alpha gene (ERα) have been associated with OA. However, previous studies into this relationship have reported inconsistent results, so we aimed to systematically review the association between ERα polymorphisms and OA susceptibility.


We conducted a comprehensive literature search of Ovid MEDLINE, EMBASE, CBM, and PubMed databases, and Google scholar, and identified 11 eligible studies that examined the association between ERα polymorphisms and OA susceptibility. We carried out a meta-analysis of these studies based on ERα XbaI (rs9340799) and PvuII (rs2234693) genotypes.


Seventeen comparisons involving 10 European and seven Asian populations of 5,325 OA patients and 10,834 controls were included in the study. The ERα XbaI polymorphism were significantly associated with OA in Europeans (AA vs. AG + GG: OR = 1.17, 95% confidence interval (CI) = 1.02–1.34, P = 0.03; AG vs. AA + GG: OR = 0.86, 95% CI = 0.75–0.99, P = 0.04) but not in Asian populations. No association was found between OA and the ERα PvuII polymorphism in any population (C vs. T, OR = 0.98, 95% CI = 0.93–1.03, P = 0.37; CC vs. TT + CT, OR = 0.97, 95% CI = 0.89–1.06, P = 0.55; CT vs. CC + TT, OR = 0.99, 95% CI = 0.92–1.06, P = 0.75; TT vs. CC + CT, OR = 1.01, 95% CI =0.92–1.12, P = 0.79).


This study suggested that there may be a weak relationship between the ERα XbaI polymorphism and OA in Europeans but not Asians, and that the ERα PvuII polymorphism was not associated with OA in either population. However, large well-designed studies are necessary to confirm these results in more homogeneous populations.
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