POLG、MTHFR基因多态性与特发性男性不育关系的Meta分析

目的:探讨线粒体聚合酶γ(mitochondrial DNA polymeraseγ,POLG)基因CAG串联重复多态性以及亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T多态性与特发性男性不育的关系。方法:检索PubMed、VIP和CNKI数据库(2001～2009年)中所有有关上述2种多态性与特发性不育相关性的病例对照研究,并用Revman4.2软件进行统计学Meta分析。结果:共纳入CAG串联重复多态性相关文献7篇,累计病例1 767例,对照1 722例;纳入C677T多态性相关文献8篇,累计病例1 474例,对照1 384例。数据合并结果显示,基因型(CAG)n=10/n≠10和(CAG)n≠10/n≠10的频率在患者与对照间均无显著性差异,其OR分别为1.00和1.70,95%CI分别为0.71～1.39(P=0.99)和0.58～5.00(P=0.34)。T677等位基因频率分布在病例与对照间无统计学差异,OR=1.07,95%CI=0.86～1.33(P=0.53)。病例与对照间,基因型TT677/(CC677+CT677)的OR=1.40,95%CI=0.72～2.74(P=0.32)。结论:POLG基因CAG重复多态性、MTHFR基因C677T多态性与特发性不育不具相关性。受纳入文献数量的限制,本Meta分析结果尚待更多高质量的大样本研究予以进一步证实。

Association of Polymorphisms in POLG and MTHFR Gene with Idiopathic Male Infertility: A Meta-analysis

Objective：To assess the association of CAG repeats polymorphism in the mitochondrial DNA polymerase γ（POLG） gene and the C677T polymorphism of methylenetetrahydrofolate reductase（MTHFR） gene with idiopathic male infertility（IMI） using Meta-analysis.Methods： All case-control studies involved in the relationship between the two polymorphisms and IMI which were retrieved from PubMed,VIP and CNKI databases（2001-2009）.All statistical analysis was performed with RevMan 4.2 software.Results： Seven articles concerning CAG repeats polymorphism and 8 papers about C677T polymorphism were selected in this study,including a total of 1 761 IMI cases and 1 722 healthy controls for the CAG repeats and a total of 1 474 IMI subjects and 1 384 controls for the C677T polymorphism.The combined data revealed that both（CAG）n=10/n≠10（OR=1.00,95%CI=0.71-1.39,P=0.99） and（CAG）n≠10/n≠10（OR=1.70,95%CI=0.58-5.00,P=0.34） genotypes had no significant differences in frequencies between cases and controls.There was no statistical significance in frequency of T677 allele between cases and controls（OR=1.07,95%CI=0.86-1.33,P=0.53）.The OR was 1.40,95%CI=0.72-2.74（P=0.32） in TT677 genotype compared with（CC677＋CT677） genotypes.Conclusion： The present data suggested that both CAG repeats of the POLG gene and C677T in the MTHFR gene are not correlated with IMI.Further evaluations in adequately powered large studies are needed to confirm these findings.