老年性黄斑变性易感基因2单核苷酸多态性与息肉样脉络膜血管病变相关性的系统评价与meta分析

The age-related maculopathy susceptibility 2 polymorphism and polypoidal choroidal vasculopathy： a systemic review and meta-analysis

目的 探讨老年性黄斑变性易感基因2 （ARMS2） A69S基因单核苷酸多态性与息肉样脉络膜血管病变（PCV）的相关性,分析PCV与渗出型老年性黄斑变性（wAMD） ARMS2碱基分布是否有差异.方法 系统评价与meta分析.以PCV、AMD、ARMS2、LOC387715、A69S、rs10490924、老年性黄斑变性、年龄相关性黄斑变性、息肉样脉络膜血管病变、单核苷酸多态性等中英文检索词,在美国国立医学图书馆Pubmed、荷兰医学文献Embase、Web of Science、中国知网和万方数据资源系统中检索文献.纳入病例对照研究,排除综述、病理报告及系统评价.当同一课题组发表多次数据,只纳入最新文献.使用纽卡斯尔-渥太华量表评价纳入文献质量.采用Rev Man 5.1.4软件进行碱基频率、基因型频率与表型相关性的统计学分析.结果 共纳入14篇文献.其中,PCV患者2007例,wAMD患者1308例,无PCV、wAMD的对照组受试者共3286人.PCV患者中变异基因型TT者罹患PCV的风险是野生型GG者的5.20倍[95％可信区间（CI）为3.90～6.95];杂合基因型GT者罹患PCV的风险轻度升高,是野生型GG者的1.85倍（95％ CI为1.42～2.40）.T碱基频率在wAMD组高于PCV组,合并比值比为1.60（95％CI为1.31～1.96）.结论 ARMS2 A69S是PCV的危险基因,基因型TT和GT均可使罹患PCV的风险增加,尤以纯合变异基因型TT风险更大.T碱基的存在使罹患wAMD的危险性略大于PCV.

Objective To investigate the relationship of the age-related maculopathy susceptibility 2 （ARMS2） A69S polymorphism and polypoidal choroidal vasculopathy （PCV）,and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration （wAMD）.Methods This is a systemic review and meta-analysis.A literature research was performed in Pubmed,Embase,Web of Knowledge,Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of ＆quot; ARMS2,LOC387715,A69S,rs10490924,age related macular degeneration,polypoidal choroidal vasculopathy,single nucleotide polymorphism＆quot;.Case-control studies were included,while review,case report,or systemic reviews were excluded.The latest one of multiple articles was included only which published by the same group.The results of individual studies were pooled using the software Review Manager 5.1.4,and the correlation between allele frequencies,genotype and phenotype were analyzed.Results A total of 14 articles,consisting 2007 PCV patients,1308 wAMD patients and 3286 controls were recruited.The pooled odds ratio （OR） in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 （95% CI：3.90-6.95）.Heterozygous genotype GT mildly increased the risk in affecting PCV,and the OR of GT versus GG is 1.85 （95% CI：1.42-2.40.The frequency of T allele in wAMD was higher than in PCV,pool OR=1.60 （95%CI：1.31-1.96）.Conclusions The ARMS2 A69S variant is associated with PCV.Genotypes of TT and GT had an effect in increasing the risk of PCV,and the effect is even greater in genotype of TT.T allele had an effect in increasing the risk of PCV and wAMD,and the risk for wAMD is slightly greater than for PCV.