【摘要】 目的探讨1,4,5三磷酸肌醇3激酶C基因(ITPKC)功能性单核苷酸多态位点(SNP)rs28493229与川崎病(KD)并发冠状动脉损伤(CALs)的相关性。方法在中英文数据库中检索KD和/或CALs与ITPKC相关性研究的文献,根据纳入与排除标准筛选文献,获取截止2012年9月以前公开发表的病例对照研究资料,评价质量后采用RevMan 5.1软件进行meta分析。结果对纳入的9个ITPKC rs28493229等位基因与KD相关性的病例对照研究(3 292名KD患者与11 897名对照)进行meta分析,结果提示SNP的C等位基因与KD发生风险相关[P<0.001,OR=1.48,95%CI(1.23,1.79)]。rs28493229风险等位基因C的携带者(CG+CC)相对于GG个体,患病风险增加约45%[P=0.01,OR=1.45,95%CI(1.08,1.93)]。针对中国人群ITPKC rs28493229等位基因与KD相关性研究的综合分析提示相似的结果。未发现该SNP与KD合并CALs发生相关联的证据。统计分析未提示明显的发表偏倚。结论 ITPKC基因功能性SNP rs28493229的C等位基因可能增加KD的发生风险,ITPKC基因功能与KD的发生可能相关。目前有限数量的研究还缺乏证据提示该SNP风险等位基因是KD并发CALs的易感遗传标记。更多还原

【Abstract】 Objection To explore the association of a functional SNP(single nucleotide polymorphism) rs28493229(G/C) in ITPKC gene(inositol 1,4,5-trisphosphate 3-kinase C) with Kawasaki disease(KD) and its complication,coronary artery lesions(CALs).Methods By the end of Sep.2012,the published literatures were collected for the case-control studies evaluating the relationship between rs28493229 and KD/CALs from English and Chinese literature databases according to the same criteria.After screening and quality evaluation were performed of the included original articles,then the meta-analysis was conducted by RevMan 5.1 software.Results A total of 9 studies including 3 292 patients with KD and 11 897 controls were extracted for systematic review on the association of rs28493229 with the risk of KD.The result showed that the minor allele C of the SNP was more common in cases than in controls [P<0.001,OR=1.48,95% CI(1.23,1.79)].Further analysis of the genotype distribution of rs28493229,revealed that the risk of KD in children with C allele increased about 45% relative to children with GG [P=0.01,OR=1.45,95% CI(1.08,1.93)].The similar results were also observed in the risk of KD in Chinese population with rs28493229 in ITPKC gene.Meanwhile,the association of the allele C with development of CALs in KD patients was not observed.There was no significant publication bias as suggested by Egger and Begg tests.Conclusions The functional SNP rs28493229 may increase the risk of KD.It is suggested that ITPKC gene may play an important role in the development of KD.However,at present,there are not sufficient evidences supporting the association of rs28493229 with CALs in patients with KD.更多还原