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Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis

Lookup NU author(s): Professor John LoughlinORCiD



Background: The objective of this study was to examine the relationship between common genetic variation of the ESR2 gene and osteoarthritis. Methods: In the discovery study, the Rotterdam Study-I, 7 single nucleotide polymorphisms (SNPs) were genotyped and tested for association with hip (284 cases, 2772 controls), knee (665 cases, 2075 controls), and hand OA (874 cases, 2184 controls) using an additive model. In the replication stage one SNP (rs1256031) was tested in an additional 2080 hip, 1318 knee and 557 hand OA cases and 4001, 2631 and 1699 controls respectively. Fixed- and random-effects meta-analyses were performed over the complete dataset including 2364 hip, 1983 knee and 1431 hand OA cases and approximately 6000 controls. Results: The C allele of rs1256031 was associated with a 36% increased odds of hip OA in women of the Rotterdam Study-I (OR 1.36, 95% CI 1.08-1.70, p = 0.009). Haplotype analysis and analysis of knee-and hand OA did not give additional information. With the replication studies, the meta-analysis did not show a significant effect of this SNP on hip OA in the total population (OR 1.06, 95% CI 0.99-1.15, p = 0.10). Stratification according to gender did not change the results. In this study, we had 80% power to detect an odds ratio of at least 1.14 for hip OA (alpha = 0.05). Conclusion: This study showed that common genetic variation in the ESR2 gene is not likely to influence the risk of osteoarthritis with effects smaller than a 13% increase.

Publication metadata

Author(s): Kerkhof HJM, Meulenbelt I, Carr A, Gonzalez A, Hart D, Hofman A, Kloppenburg M, Lane NE, Loughlin J, Nevitt MC, Pols HAP, Rivadeneira F, Slagboom EP, Spector TD, Stolk L, Tsezou A, Uitterlinden AG, Valdes AM, van Meurs JBJ

Publication type: Article

Publication status: Published

Journal: BMC Medical Genetics

Year: 2010

Volume: 11

Issue: 1

Pages: 164

Print publication date: 01/11/2010

Date deposited: 11/11/2011

ISSN (electronic): 1471-2350

Publisher: BioMed Central Ltd.


DOI: 10.1186/1471-2350-11-164


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Funder referenceFunder name
Dutch Arthritis Association
Leiden University Medical Centre
Pfizer Inc., Groton, CT, USA
Arthritis Research UK
Centre of Medical System Biology
UK NIHR Biomedical Research Centre
050-060-810Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO)
200800European Commission
911 03 012Netherlands Organization of Scientific Research
917 66344Netherlands Organization of Scientific Research
911-03-016Netherlands Organization of Scientific Research
MW 904-61-095Netherlands Organization of Scientific Research
QLK6-CT-2002-02629European Commission