Association of ESRα XbaI A > G, ESRα PvuII T > C and ESRβ AlwNI T > C Polymorphisms with the Risk of Developing Adolescent Idiopathic Scoliosis: A Systematic Review and Genetic Meta-analysis

Rev Bras Ortop (Sao Paulo). 2020 Feb;55(1):8-16. doi: 10.1016/j.rboe.2018.03.001. Epub 2020 Jan 9.

Abstract

Several association studies of genes polymorphisms on estrogen receptors-α and β with respect to adolescent idiopathic scoliosis (AIS) have been published in the past two decades. However, the association with AIS, especially among different ethnic subgroups, still remains controversial. Thus, we investigated these inconclusive data by performing a meta-analysis to systematically evaluate the association. A literature search was conducted in the PubMed, ISI Web of Science, EMBASE, SCOPUS, EBSCO, Cochrane Library, China National Knowledge Infrastructure (CNKI) and Wanfang databases until January 20, 2018. The strength of relationship was assessed using odds ratios (ORs) and 95% confidence intervals (95%CIs). A total of 12 case-control studies with 4,304 cases of AIS and 3,123 controls met our criteria. The pooled ORs indicated that the ESRα XbaI A > G, ESRα PvuII T > C and ESRβ AlwNI T > C polymorphisms were not significantly associated with the risk of developing AIS in the overall analysis. However, we found a significant association between the ESRα XbaI A > G polymorphism and AIS under the homozygote model (GG versus AA; OR = 1.448, 95%CI: 1.052-1.993; p = 0.023). The present meta-analysis suggests that the ESRα XbaI A > G, ESRα PvuII T > C and ESRβ AlwNI T > C polymorphisms may not be associated with the risk of developing AIS in the overall analysis. However, ESRα XbaI A > G might have an influence on the susceptibility to develop AIS among Asians. Considering the limited sample size and ethnicity, further larger studies are needed to provide a more precise estimation of the associations.

Keywords: idiopathic scoliosis; meta-analysis; polymorphism; receptors, estrogen.