Association of ESRα XbaI A>G, PvuII T>C and ESRβ AlwNI T>C polymorphisms with the risk of adolescent idiopathic scoliosis: a systematic review and genetic meta-analysis

Abstract Objective Several association studies of estrogen receptors-α and β genes polymorphisms with respect to adolescent idiopathic scoliosis have been published in the past two decades. However, the association with adolescent idiopathic scoliosis, especially among different ethnic subgroups, still remains controversial. Thus, we investigated these inconclusive data by performing a meta-analysis to systematically evaluate the association. Methods A literature search was conducted using PubMed, Google Scholar, Web of Science, and CNKI databases until January 20, 2018. The strength of relationship was assessed by using Odds Ratios (ORs) and 95% Confidence Interval. Results A total of 12 case–control studies with 4304 adolescent idiopathic scoliosis cases and 3123 controls met our criteria. The pooled ORs indicated that XbaI A>G, PvuII T>C and ESRβ AlwNI T>C polymorphisms were not significantly associated with AIS risk in overall. However, we found a significant association between ESRα XbaI A>G polymorphism and AIS under homozygote model (GG vs. AA, OR = 1.448, 95% CI 1.052–1.993, p  = 0.023). Conclusion This meta-analysis suggests that ESRα XbaI A>G, PvuII T>C and ESRβ AlwNI T>C polymorphisms may not be associated with risk of adolescent idiopathic scoliosis in overall analysis. However, ESRα XbaI A>G might have influence on the susceptibility of adolescent idiopathic scoliosis among Asians. Considering the limited sample size and ethnicity, further larger scaled studies are needed to provide a more precise estimation on the associations.