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Review Article

Association of estrogen receptor gene polymorphisms with human precocious puberty: a systematic review and meta-analysis

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Pages 516-521 | Received 06 Nov 2014, Accepted 16 Mar 2015, Published online: 02 Jun 2015
 

Abstract

This study aims to estimate the association between ESR1 polymorphisms (PvuII and XbaI) and ESR2 polymorphisms (RsaI and AluI) with precocious puberty. Relevant studies published before March 2014 were retrieved by a electronic search among nine databases. Meta-analysis of the pooled odds ratios (ORs) with 95% confidence intervals (CIs) was calculated. Four eligible case–control studies including 491 precocious puberty patients and 370 healthy controls were identified. Three studies reported ESR1 PvuII and XbaI polymorphism and one study reported ESR2 RsaI and AluI polymorphism. Increment of precocious puberty risk was associated with PvuII polymorphism in the heterosis model ((CT) versus TT: OR 1.42, 95% CI: 1.05–1.91, p = 0.02). Risk of precocious puberty was associated with XbaI polymorphism in the dominant model (GG + GA versus AA: OR 1.48, 95% CI: 1.11–1.97, p = 0.007) and the heterosis model (GA versus AA: OR 1.68, 95% CI: 1.23–2.29, p = 0.001). This meta-analysis suggests that ESR1 XbaI and PvuII polymorphisms are associated with precocious puberty susceptibility, and the relationship between ESR2 RsaI and AluI polymorphism with precocious puberty remains to be further investigated. Well-designed studies with large sample size among different polymorphisms and ethnicities are in urgent need to provide and update reliable data for comprehensive and definite conclusion.

Declaration of interest

The research was supported by Basic and Frontier Research Project of Chongqing Science and Technology Commission (Grant No. cstc2013jcyjA10001).

The authors report no conflicts of interests. The authors alone are responsible for the content and writing of the article.

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