雌激素受体1基因多态性与青少年特发性脊柱侧凸相关性Meta分析

Association of estrogen receptor 1 gene polymorphism with idiopathic scoliosis in adolescents:a Meta-analysis

目的评价雌激素受体1（ESR1）rs9340799（Xbal）、rs2234693（PvuⅡ）基因多态性与青少年特发性脊柱侧凸（AIS）的相关性。方法计算机检索PubMed、万方医学网、中国生物医学文献数据库（CBM）、中国学术期刊全文数据库（CNKI）、维普全文数据库等，按照纳入标准收集ESR1基因多态性与青少年特发性脊柱侧凸相关性的病例对照研究数据，末次检索时间为2015年7月23日。采用Stata12．0软件进行Meta分析，对研究数据的OR值进行合并，并对发表偏倚进行评估。结果根据纳入和剔除标准，共4篇文献符合要求，有关ESR1 rs9340799文献4篇，有关rs2234693文献3篇。ESR1 rs9340799基因多态性与AIS关联性研究中，等位基因模型（G vs．A）、显性模型（GG＋AGvs．AA）、隐性模型（GGvs．AG＋AA）的OR值分别为1．08（0．83～1．21）、1．06（0．91～1．24）、1．08（0．63～1．83），差异均无统计学意义。ESR1 rs2234693基因多态性与AIS关联性研究中，等位基因模型（Cvs．T）、显性模型（CC＋TCvs．TT）、隐性模型（CCvs．TC＋TT）的OR值分别为1．08（0．92～1．26）、1．07（0．85～1．35）、1．14（0．85～1．54），差异均无统计学意义。结论结果表明，目前相关研究尚不能证明ESR1 rs9340799及rs2234693基因多态性与AIS有关。

Objective To assess the potential associations of estrogen receptor 1 gene （ ESR1 ） rs9340799 （ Xbal locus） and rs223469（Pvu Ⅱ locus） polymorphism with adolescent idiopathic scofiosis （AIS）. Methods Studies on AIS pubfished up to July 23,2015 were initially searched from PubMed, Wangfang Med Online, China Biological Medicine Database（ CBM）,China National Knowledge Infrastructure（CNKI） and VIP Database, and then eligible case-control data on associations of ESR1 with AIS were retrieved by the inclusion criteria. Meta-analysis was performed using Stata software （ version 12.0） , and odds ratio （OR） value for the data was pooled for evaluation of the publication bias. Results By the pre-determined inclusion and exclusion criteria, a total of 4 articles were finally included in this meta-analysis. Associations of ESR1 rs9340799 predisposition with AIS appeared in 4 articles, and rs2234693 in 3. The studies indicated that the OR value for correlation of ESR1 rs9340799 gene polymorphism with AIS was 1.08 （0.83 - 1.21 ） , 1.06 （ 0.91 - 1.24 ） and 1.08 （0.63 - 1.83 ） for allele model（ G vs. A）, dominant model （ GG ＋ AG vs. AA）, and recessive model （ GG vs. AG ＋ AA）, respectively. The difference was not significant. By association of ESR1 rs2234693 gene polymorphism with AIS,the OR value was 1.08（0.92 - 1.26） ,1.07（0.85 - 1.35 ） and 1.14（0.85 - 1.54） ,respectively for allele model （ C vs. T） , dominant model（ CC ＋ TC vs. TT） and recessive model （ CC vs. TC ＋ TF）, with no statistical significance. Condusion Our meta-analysis suggests that current studies can not supply enough evidences to prove the associations of ESR1 rs9340799 and rs2234693 gene polymorphisms with AIS.