Section 57
Chapter 56,334

The estrogen receptor α gene (XbaI, PvuII) polymorphisms and susceptibility to idiopathic scoliosis: a meta-analysis

Yang, M.; Li, C.; Li, M.

Journal of Orthopaedic Science Official Journal of the Japanese Orthopaedic Association 19(5): 713-721


ISSN/ISBN: 1436-2023
PMID: 24961754
DOI: 10.1007/s00776-014-0597-0
Accession: 056333789

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A genetic association meta-analysis of estrogen receptor α gene (ERα) polymorphisms with idiopathic scoliosis. To determine whether the ERα gene polymorphisms correlate with idiopathic scoliosis. Idiopathic scoliosis represents a complex genetic trait under the influence of multiple predisposition genes. Several studies showed that single nucleotide polymorphism (SNP) in ERα was associated with idiopathic scoliosis, but the results from some studies were conflicting. We searched PubMed, EMBASE, and Cochrane CENTRAL databases from January 1994 to January 2014. All the case-control studies included should mainly study the relationship between XbaI A/G, PvuII T/C polymorphisms and the susceptibility of idiopathic scoliosis. A total of 299 articles were found, six of which fulfilled the inclusion criteria after being assessed by two reviewers. A pooled odds ratio (OR) with 95% confidence interval (95% CI) was calculated to assess the associations. Subgroup meta-analyses were performed according to ethnicity. Overall, ERα Xbal A/G polymorphism was not associated with risk of idiopathic scoliosis (G versus A, OR 1.07, 95% CI 0.88-1.30, P = 0.51; AG versus AA, OR 1.03, 95% CI 0.89-1.21, P = 0.67; GG versus AA, OR 1.12, 95% CI 0.72-1.73, P = 0.61; AG/GG versus AA, OR 1.05, 95% CI 0.91-1.22, P = 0.49; GG versus AG/AA, OR 1.10, 95% CI 0.75-1.63, P = 0.62). ERα PvuII T/C polymorphism was also not associated with risk of idiopathic scoliosis under five models (C versus T, OR 0.93, 95% CI 0.75-1.14, P = 0.48; TC versus TT, OR 0.99, 95% CI 0.80-1.23, P = 0.93; CC versus TT, OR 1.05, 95% CI 0.80-1.39, P = 0.72; TC/CC versus TT, OR 1.01, 95% CI 0.83-1.23, P = 0.93; CC versus TC/TT, OR 1.05, 95% CI 0.82-1.33, P = 0.72). ERα Xbal and ERα PvuII polymorphisms are not obviously associated with risk of idiopathic scoliosis.

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