男性不育患者Y染色体微缺失的系统评价:Meta分析和GRADE证据整合

The Systematic Review of Microdeletions of the Y Chromosome in Male Infertility Patients:Meta-analysis and Grade Evidence Integration

目的使用系统评价方法横向整合分析男性不育患者中Y染色体微缺失情况,初步探索男性不育的原因,并使用GRADE分级评分系统对证据进行纵向整合分级,为临床早期明确男性不育病因提供参考依据。方法计算机检索数据库PubMed、EMBASE、CBM、CNKI、VIP;并手工检索相关杂志以及专题会议等。采用系统评价方法对纳入的文献进行横向整合分析,并按照GRADE证据整合原理对总体质量进行纵向的评价,在利弊综合分析的基础上,进行证据质量分级。结果本研究共纳入7篇文献,观察人数共计3069例,研究类型包括横断面研究5篇及队列研究2篇。系统整合评价结果显示,男性不育患者Y染色体AZF缺失率高于正常男性(横断面研究结果RD=0.09,95%CI:0.08~0.10)、(队列研究RD=10.96,95%CI:1.51~79.41),且差异均具有统计学意义。而在各研究中尤其为AZFc缺失最常见。最后将此证据采用GRADE纵向整合方法进行分析,本研究证据质量为中等证据。结论本研究结果显示男性不育患者Y染色体缺失率高于正常男性,且是男性不育症的重要遗传因素。因此,Y染色体微缺失检测是避免临床盲目治疗、减少遗传病发生具有重要意义。但由于纳入的原始研究证据质量不高,本研究整体证据质量为中等。故需要大样本量、高质量证据的随机对照试验作进一步验证。

Objective To horizontally analyze the Y chromosome microdeletions of male infertility patients with systematic review in order to primarily understand the cause of male infertility.Meanwhile,the GRADE system was used to evaluate the quality of evidence longitudinally in order to provide basis for understanding the etiology in early clinic diagnosis.Methods The relevant Chinese and English literature was searched in PubMed,Embase,CBM,CNKI,VIP Database,and supplemented by manual retrieval for relevant magazines and conferences.Included articles were horizontally analyzed with systematic review,and the quality of evidence was evaluated longitudinally with the principle of GRADE.On the basis of comprehensive analysis about advantages and disadvantages,the GRADE(Grade of Recommendation,Assessment,Development,and Evaluation)system was used to rate the level of the quality of evidence.Results Seven relevant articles and 3069 patients were included in this analysis;5 were cross-sectional studies,2 were cohort studies.The result of systematic review showed that the frequency of Y chromosome AZF microdeletions in male infertility patients were higher than that in normal males(crosssectional study:RD=0.09,95%CI=0.08-0.10;cohort study:RD=10.96,95%CI=1.51-79.41),and the differences was statically significant.AZFc microdeletion was the most common case in various studies.Lastly,the evidence was analyzed by GRADE longitudinal integration method,and the quality of evidence for this study was‘moderate’.Conclusion The frequency of Y chromosome microdeletions of in male infertility patients is higher than that in normal males,and microdeletions of the Y chromosome is a major hereditary factor.Therefore,detecting microdeletions of the Y chromosome in patients is of great significance to avoid blind clinical treatment and prevent genetic diseases.However,the quality of evidence is moderate.Large-scale randomized controlled trial with high-quality should be performed.