BARD1基因单核苷酸多态性和神经母细胞瘤关联性的Meta分析

Association between breast cancer susceptibility gene associated RING domain-1 single-nucleotide polymorphisms and neuroblastoma： a Meta-analysis

目的评价乳腺癌易感基因1（BRCAJ）相关环指结构域-1（BARD1）基因的rs6435862和rs3768716单核苷酸多态性和神经母细胞瘤㈧B1易感性的关联。方法计算机检索PubMed、Embase、WebofScience、中国知网和万方数据库自建库至2018年5月10日收录的BARD，基因单核苷酸多态性与NB易感性的相关文献。筛选后提取文献的信息。采用纽卡斯尔-渥太华量表（NOS）评价文献的质量：采用RevMan5．3软件对资料进行Meta分析，观察等位基因模型、纯合子模型、杂合子模型、显性模型及隐性模型下rs6435862和rs3768716多态性和NB易感性的关系。结果最终纳入5篇文献（共9项独立研究1，包括3597例NB患者和10827例健康对照者。NOS评价显示文献均≥6颗星，提示均为高质量研究。Meta分析结果显示在5种遗传模型下，rs6435862、rs3768716多态性和NB易感性均有关，差异均有统计学意义（P〈0．05）。结论BARD1基因的rs6435862、rs3768716单核苷酸多态性和NB易感性有显著关联。这2个位点的G．等位基因和GG．基冈型携带者患NB的风险较高。

Objective To assess and synthesize the current evidence on association of rs6435862 and rs3768716 single-nueleotide polymorphisms （SNPs） of breast cancer susceptibility gene associated RING domain-1 （BARD1） gene and neuroblastoma （NB） susceptibility. Methods Five electronic databases including PubMed, Embase, Web of Science, CNKI and Wanfang were searched for potentially relevant studies on the association of BARD1 SNPs and NB from precious to May 10, 2018. Main information of included studies was extracted after literature selection. Newcastle-Ottawa Scale （NOS） was employed for quality assessment. RevMan5.3 software was used to analyze the association of rs6435862 and rs3768716 SNPs and NB susceptibility under allelic model, homozygous model, heterozygous model, dominant model, as well as recessive model. Results Five case-control studies with 9 independent cohorts comprising 3597 NB patients and 10827 healthy controls were yielded for Meta-analysis. For NOS, each included study obtained no less than 6 stars and was labeled of high quality. The findings indicated that rs6435862 and rs3768716 polymorphisms had significant association with NB susceptibility under five genetic models （P〈0.05）. Conclusion Rs6435862 and rs3768716 SNPs of BARD1 gene are significantly associated with NB; G-allele and GG-genotype carriers appear to have an increased risk of NB susceptibility.