title: Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis.
abstract: 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 (α = 0.05).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Hanneke J M
authors.initials: HJ
authors.lastname: Kerkhof
authors.forename: Ingrid
authors.initials: I
authors.lastname: Meulenbelt
authors.forename: Andrew
authors.initials: A
authors.lastname: Carr
authors.forename: Antonio
authors.initials: A
authors.lastname: Gonzalez
authors.forename: Deborah
authors.initials: D
authors.lastname: Hart
authors.forename: Albert
authors.initials: A
authors.lastname: Hofman
authors.forename: Margreet
authors.initials: M
authors.lastname: Kloppenburg
authors.forename: Nancy E
authors.initials: NE
authors.lastname: Lane
authors.forename: John
authors.initials: J
authors.lastname: Loughlin
authors.forename: Michael C
authors.initials: MC
authors.lastname: Nevitt
authors.forename: Huibert A P
authors.initials: HA
authors.lastname: Pols
authors.forename: Fernando
authors.initials: F
authors.lastname: Rivadeneira
authors.forename: Eline P
authors.initials: EP
authors.lastname: Slagboom
authors.forename: Tim D
authors.initials: TD
authors.lastname: Spector
authors.forename: Lisette
authors.initials: L
authors.lastname: Stolk
authors.forename: Aspasia
authors.initials: A
authors.lastname: Tsezou
authors.forename: André G
authors.initials: AG
authors.lastname: Uitterlinden
authors.forename: Ana M
authors.initials: AM
authors.lastname: Valdes
authors.forename: Joyce B J
authors.initials: JB
authors.lastname: van Meurs
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D047629:Estrogen Receptor beta