RNF213基因多态性与颅内血管狭窄性疾病易感性的汇总分析

目的 探讨RNF213基因多态性(rs112735431、rs138130613及rs148731719)与颅内血管狭窄性疾病易感性的关联.方法 根据相关数据库,收集涉及RNF213基因多态性与颅内血管狭窄性疾病关联的研究文献,应用Stata 12.0软件选用合适遗传模型,分析异质性并计算合并优势比(odds ratio,OR)及其95％可信区间(confidence interval,口).结果 经筛选共纳入12篇相关文献.汇总分析结果显示,rs112735431多态性与烟雾病易感性在各种遗传模型下均存在显著性关联,其中以显性模型最为显著(AA+ GA基因型对GG基因型:OR 101.46,95％ CI 59.41～173.27;P＜0.001),同时该位点多态性也与非烟雾病性颅内动脉狭窄/闭塞存在显著相关性(AA+ GA基因型对GG基因型:OR 13.82,95％ CI4.48～42.61;P ＜0.001);rs138130613多态性在显性模型下与中国人群烟雾病易感性存在显著性关联(OR 5.01,95％ CI 1.57 ～ 15.98;P =0.006);未发现rs148731719多态性与烟雾病易感性有关联.结论 RNF213基因rs112735431多态性是烟雾病的易感因素,同时该位点多态性还与非烟雾病性颅内动脉狭窄形成有关.系统研究RNF213分子功能对此类血管狭窄性疾病的诊断和治疗具有重要意义.

RNF213 gene polymorphisms and susceptibility of intracranial vascular stenosis disease: a meta-analysis

Objective To investigate the correlation between RNF213 gene polymorphisms (rs112735431,rs138130613,and rs148731719) and the susceptibility of intracranial vascular stenosis disease.Methods The literature of studies on the correlation between RNF213 gene polymorphisms and intracranial vascular stenosis disease was collected according to the related databases.Using the Stata 12.0 software and selecting suitable genetic model,the heterogeneity was analyzed and the pooled odds ratio (OR) and its 95％ confidence interval (CI) were calculated.Results A total of 12 articles were included after screening.The result of meta-analysis showed that the rs112735431 polymorphism had a significant correlation with the susceptibility of moyamoya disease (MMD) in all genetic models,especially the most significant dominant model (AA + GA genotype vs.GG genotype:OR 101.46,95％ CI 59.41-173.27;P ＜0.001),at the same time,the polymorphism of this site also had significant correlation with the nonMMD intracranial large artery stenosis/occlusion (AA + GA genotype vs.GG genotype:OR 13.82,95％ CI 4.48-42.61;P＜ 0.001);the rs138130613 polymorphism had significant correlation with the susceptibility of MMD in Chinese population (OR 5.01,95％ CI 1.57-15.98;P=0.006);and no correlation between the rs148731719 polymorphism and the susceptibility of MMD was observed.Conclusions The RNF213 gene rs112735431 polymorphism is a susceptible factor of MMD,at the same time,the polymorphism of this site is also associated with the formation of non-MMD intracranial large artery stenosis.Systematic study on the molecular function of RNF213 may have important significance for diagnosis and treatment of such vascular stenosis diseases.