Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Musculoskeletal Disorders
Published in: BMC Musculoskeletal Disorders 1/2015

Open Access 01-12-2015 | Research article

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

Authors: Yan Ren, Bo Tan, Peijing Yan, Yi You, Yanqiao Wu, Yue Wang

Published in: BMC Musculoskeletal Disorders | Issue 1/2015

Login to get access

Abstract

Background

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.

Methods

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.

Results

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).

Conclusions

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.
Literature
1.
Felson DT, Zhang Y. An update on the epidemiology of knee and hip osteoarthritis with a view to prevention. Arthritis Rheum. 1998;41:1343–55.CrossRefPubMed
2.
3.
Chapman K, Takahashi A, Meulenbelt I, Watson C, Rodriguez-Lopez J, Egli R, et al. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5’UT R of GDF5 with osteoarthrit is susceptibilit y. Hum Mol Genet. 2008;17(10):1497–504.CrossRefPubMed
4.
Nakamura T, Shi DQ, Tzetis M, Rodriguez-Lopez J, Miyamoto Y, Tsezou A, et al. Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Hum Mol Genet. 2007;16(14):1676–81.CrossRefPubMed
5.
Valdes AM, Loughlin J, Oene MV, Chapman K, Surdulescu GL, Doherty M, et al. Sex and ethnic differences in the association of ASPN, CALM 1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum. 2007;56(1):137–46.CrossRefPubMed
6.
Gálvez-Rosas A, González-Huerta C, Borgonio-Cuadra VM. A COL2A1 gene polymorphism is related with advanced stages of osteoarthrit is of the knee in Mexican Mestizo population. Rheumatol Int. 2010;30(8):1035–9.CrossRefPubMed
7.
Jiang LY, Tian WJ, Wang YC, Rong JS, Bao CD, Liu YP, et al. Body mass index and susceptibility to knee osteoarthritis: A systematic review and meta-analysis. Joint Bone Spine. 2012;79:291–7.CrossRefPubMed
8.
Lee R, Kean WF. Obesity and knee osteoarthritis. Inflammopharmacol. 2012;20:53–8.CrossRef
9.
Jiang LY, Rong JS, Wang YC, Hu F, Bao CD, Li X, et al. The relationship between body mass index and hip osteoarthritis: A systematic review and meta-analysis. Joint Bone Spine. 2011;78:150–5.CrossRefPubMed
10.
Muthuri SG, McWilliams DF, Doherty M, Zhang W. History of knee injuries and knee osteoarthritis: a meta-analysis of observational Studies. Osteoarthr Cartil. 2011;19:1286–93.CrossRefPubMed
11.
McWilliams DF, Leeb BF, Muthuri SG, Doherty M, Zhang W. Occupational risk factors for osteoarthritis of the knee: a meta-analysis. Osteoarthr Cartil. 2011;19:829–39.CrossRefPubMed
12.
13.
Tanamas SK, Wijethilake P, Wluka AE, Davies-Tuck ML, Urquhart DM, Wang Y, et al. Sex hormones and structural changes in osteoarthritis: A systematic review. Maturitas. 2011;69:141–56.CrossRefPubMed
14.
Papalia R, Buono AD, Osti L, Denaro V, Maffulli N. Meniscectomy as a risk factor for knee osteoarthritis: a systematic review. Br Med Bull. 2011;99:89–106.CrossRefPubMed
15.
Blagojevicy M, Jinksy C, Jefferyz A, Jordany KP. Risk factors for onset of osteoarthritis of the knee in older adults: a systematic review and meta-analysis. Osteoarthr Cartil. 2010;18:24–33.CrossRef
16.
Loughlin J. Genetic epidemiology of primary osteoarthritis. Rheumatology. 2001;13:111–6.
17.
Loughlin J. Familial Inheritance of Osteoarthritis. Lippincott Williams Wilkins. 2004;427S:S22–5.
18.
Tsai CL, Liu TK. Osteoarthritis in women:its relationship to estrogen and current trends. Life Sci. 1992;50(23):1737–44.CrossRefPubMed
19.
Richette P, Corvol M, Bardin T. Estrogens, cartilage, and osteoarthritis. Joint Bone Spine. 2003;70:257–62.CrossRefPubMed
20.
Cheung E, Schwabish MA, Kraus WL. Chromatin exposes intrinsic differences in the transcriptional activities of estrogen receptorsαandβ. EMBO J. 2003;22:600–11.CrossRefPubMedPubMedCentral
21.
Ponglikitmongkol M, Green S, Chambon P. Genomic organization of the human oestrogen receptor gene. EMBO J. 1988;7:3385–8.PubMedPubMedCentral
22.
Wang KJ, Shi DQ, Sun LS, Jiang X, Lü YY, Dai J, et al. Association of estrogen receptor alpha gene polymorphisms with bone mineral density: a meta-analysis. Chin Med J. 2012;125(14):2589–97.PubMed
23.
Bergink AP, van Meurs JB, Loughlin J, Arp PP, Fang Y, Hofman A, et al. Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis Rheum. 2003;48(7):1913–22.CrossRefPubMed
24.
Ushiyama T, Ueyama H, Inoue K, Nishioka J, Ohkubo I, Hukuda S. Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol. 1998;25:134–7.PubMed
25.
Jin SY, Hong SJ, Yang HI, Park SD, Yoo MC, Lee HJ, et al. Estrogen receptors-a gene haplotypes is associated with primary knee osteoarthritis in Korean population. Arthritis Res Ther. 2004;6(5):415–21.CrossRef
26.
Xiaoyu Dai,Chao Wang, Jin Dai, Dongquan Shi, Zhihong Xu, Dongyang Chen, et al. Association of Single Nucleotide Polymorphisms in Estrogen Receptor Alpha Gene with Susceptibility to Knee Osteoarthritis: A Case–control Study in a Chinese Han Population. BioMed Res Int. 2014 (ID 151457):1–12. http://​dx.​doi.​org/​10.​1155/​2014/​151457.​
27.
Xue Y, Li D, Li Y, Zhou YX, Xiao D, Guo SQ, et al. Relationship between Estrogen receptor gene polymorphism and osteoarthritis in Han women. Chin J Rheumatol. 2004;8:583–6.
28.
Tian Z, Guo X, Zhou F, Huang CX, Su M, Long XL, et al. Study on Relationship Between Polymorphisms of Estrogenα Receptor Gene and Primary Knee Osteoarthritis Among Women in Hunan. Pract Prev Med. 2009;6:1724–7.
29.
Loughlin J, Sinsheimer JS, Mustafa Z, Carr AJ, Clipsham K, Bloomfield VA, et al. Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis. J Rheumatol. 2000;27:779–84.PubMed
30.
Wise BL, Demissie S, Cupples LA, Felson DT, Yang M, Shearman AM, et al. The relationship of estrogen receptor-αand-βgenes with osteoarthritis of the hand. J Rheumatol. 2009;36:2772–9.CrossRefPubMedPubMedCentral
31.
Lian K, Lui L, Zmuda JM, Nevitt MC, Hochberg MC, Lee JM, et al. Estrogen receptor alpha genotype is associated with a reduced prevalence of radiographic hip osteoarthritis in elderly Caucasian women. Osteoarthr Cartil. 2007;15:972–8.CrossRefPubMedPubMedCentral
32.
Verónica Marusa BC, Celia GH, Carolina DS, María SB, Socorro CG, Antonio MD. Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee. Rheumatol Int. 2012;32:1425–30.CrossRef
33.
Riancho JA, García-Ibarbia C, Gravani A, Raine EV, Rodríguez-Fontenla C, Soto-Hermida A, et al. Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study. Osteoarthr Cartil. 2010;18:927–33.CrossRefPubMed
34.
Yang J, Shijie F, Xiao F-s. Case–control Study between Estrogen Receptor Gene Polymorphisms and Osteoarthritis in Southern Sichuan High Fluoride Areas. West China Med J. 2009;24(4):826–9.
35.
Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JPA, et al. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration. Ann Intern Med. 2009;151:W-65–94.CrossRef
36.
Stang A. Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses. Eur J Epidemiol. 2010;25(9):603–5.CrossRefPubMed
37.
Robins J, Greenland S, Breslow NE. A general estimator for the variance of the Mantele-Haenszel odds ratio. Am J Epidemiol. 1986;124:719–23.PubMed
38.
Der Simonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177–88.CrossRef
39.
40.
Duval S, Tweedie R. Trim and fill: A simple funnel-plot-based method of testing and adjusting for publication bias in meta-analysis. Biometrics. 2000;56:455–63.CrossRefPubMed
41.
Peters JL, Sutton AJ, Jones DR, Abrams KR, Rushton L. Performance of the trim and fill method in the presence of publication bias and between-study heterogeneity. Stat Med. 2007;26:4544–62.CrossRefPubMed
42.
43.
Spector TD, MacGregor AJ. Risk factors for osteoarthritis: genetics. Osteoarthr Cartil. 2004;12:S39–44.CrossRefPubMed
Metadata
Title
Association between polymorphisms in the estrogen receptor alpha gene and osteoarthritis susceptibility: a meta-analysis
Authors
Yan Ren
Bo Tan
Peijing Yan
Yi You
Yanqiao Wu
Yue Wang
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Musculoskeletal Disorders / Issue 1/2015
Electronic ISSN: 1471-2474
DOI
https://doi.org/10.1186/s12891-015-0506-5

Other articles of this Issue 1/2015

BMC Musculoskeletal Disorders 1/2015 Go to the issue

Research article

Comparative effectiveness of two different interbody fusion methods for transforaminal lumbar interbody fusion: cage versus morselized impacted bone grafts

Research article

Predicting a clinically important outcome in patients with low back pain following McKenzie therapy or spinal manipulation: a stratified analysis in a randomized controlled trial

Research article

Examining outcome of early physician specialist assessment in injured workers with shoulder complaints

Research article

Femoral diameter and stem type are independent risk factors for ARMD in the Large-headed ASR THR group

Research article

Association between socioeconomic status and pain, function and pain catastrophizing at presentation for total knee arthroplasty

Research article

Reconstruction of the coracoacromial ligament during a modified Latarjet procedure: a case series