中华眼底病杂志
中華眼底病雜誌
중화안저병잡지
CHINESE JOURNAL OF OCULAR FUNDUS DISEASES
2014年
3期
299-303
,共5页
刘冉%杨宇%韦春宜%李梓敬%丁小燕
劉冉%楊宇%韋春宜%李梓敬%丁小燕
류염%양우%위춘의%리재경%정소연
脉络膜疾病/病因学%多态性,单核苷酸%Meta分析
脈絡膜疾病/病因學%多態性,單覈苷痠%Meta分析
맥락막질병/병인학%다태성,단핵감산%Meta분석
Choroid diseases/etiology%Polymorphism,single nucleotide%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.
目的 探討老年性黃斑變性易感基因2 (ARMS2) A69S基因單覈苷痠多態性與息肉樣脈絡膜血管病變(PCV)的相關性,分析PCV與滲齣型老年性黃斑變性(wAMD) ARMS2堿基分佈是否有差異.方法 繫統評價與meta分析.以PCV、AMD、ARMS2、LOC387715、A69S、rs10490924、老年性黃斑變性、年齡相關性黃斑變性、息肉樣脈絡膜血管病變、單覈苷痠多態性等中英文檢索詞,在美國國立醫學圖書館Pubmed、荷蘭醫學文獻Embase、Web of Science、中國知網和萬方數據資源繫統中檢索文獻.納入病例對照研究,排除綜述、病理報告及繫統評價.噹同一課題組髮錶多次數據,隻納入最新文獻.使用紐卡斯爾-渥太華量錶評價納入文獻質量.採用Rev Man 5.1.4軟件進行堿基頻率、基因型頻率與錶型相關性的統計學分析.結果 共納入14篇文獻.其中,PCV患者2007例,wAMD患者1308例,無PCV、wAMD的對照組受試者共3286人.PCV患者中變異基因型TT者罹患PCV的風險是野生型GG者的5.20倍[95%可信區間(CI)為3.90~6.95];雜閤基因型GT者罹患PCV的風險輕度升高,是野生型GG者的1.85倍(95% CI為1.42~2.40).T堿基頻率在wAMD組高于PCV組,閤併比值比為1.60(95%CI為1.31~1.96).結論 ARMS2 A69S是PCV的危險基因,基因型TT和GT均可使罹患PCV的風險增加,尤以純閤變異基因型TT風險更大.T堿基的存在使罹患wAMD的危險性略大于PCV.
목적 탐토노년성황반변성역감기인2 (ARMS2) A69S기인단핵감산다태성여식육양맥락막혈관병변(PCV)적상관성,분석PCV여삼출형노년성황반변성(wAMD) ARMS2감기분포시부유차이.방법 계통평개여meta분석.이PCV、AMD、ARMS2、LOC387715、A69S、rs10490924、노년성황반변성、년령상관성황반변성、식육양맥락막혈관병변、단핵감산다태성등중영문검색사,재미국국립의학도서관Pubmed、하란의학문헌Embase、Web of Science、중국지망화만방수거자원계통중검색문헌.납입병례대조연구,배제종술、병리보고급계통평개.당동일과제조발표다차수거,지납입최신문헌.사용뉴잡사이-악태화량표평개납입문헌질량.채용Rev Man 5.1.4연건진행감기빈솔、기인형빈솔여표형상관성적통계학분석.결과 공납입14편문헌.기중,PCV환자2007례,wAMD환자1308례,무PCV、wAMD적대조조수시자공3286인.PCV환자중변이기인형TT자리환PCV적풍험시야생형GG자적5.20배[95%가신구간(CI)위3.90~6.95];잡합기인형GT자리환PCV적풍험경도승고,시야생형GG자적1.85배(95% CI위1.42~2.40).T감기빈솔재wAMD조고우PCV조,합병비치비위1.60(95%CI위1.31~1.96).결론 ARMS2 A69S시PCV적위험기인,기인형TT화GT균가사리환PCV적풍험증가,우이순합변이기인형TT풍험경대.T감기적존재사리환wAMD적위험성략대우PCV.
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 " ARMS2,LOC387715,A69S,rs10490924,age related macular degeneration,polypoidal choroidal vasculopathy,single nucleotide polymorphism".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.