精子DNA碎片与HSP90AA1基因多态性的相关性研究

Association analysis between sperm DNA fragmentation and HSP90AA1 polymorphism

目的探讨热休克蛋白(HSP)90AA1基因多态性与精子DNA碎片的关联性。方法采用精子染色质扩散(SCD)方法检测精子DNA碎片率,应用Sequenom Massarray平台检测HSP90AA1基因rs10133307、rs10873531、rs11547523、rs11621560和rs7145597位点基因型。根据精子DNA碎片指数(DFI)将患者分为两组:DFI>22.75%组和DFI≤22.75%组。比较两组精液体积、精子密度、活率、正常形态率。比较不同DFI水平下HSP90AA1基因多态性位点基因型及等位基因频率。结果DFI≤22.75%组患者的精液体积明显低于DFI>22.75%组(t=-2.06,P<0.05),但DFI≤22.75%组患者的精子密度、活率和正常形态率明显高于DFI>22.75%组(t分别=-5.33、-7.47、-5.21,P均<0.05)。HSP90AA1基因五个多态性位点rs10133307、rs10873531、rs11547523、rs11621560和rs7145597基因型的频数分布均符合Hardy-Weinberg平衡,但基因型分布和等位基因频率分布比较,差异均无统计学意义(χ^2分别=0.74、0.52、0.32、0.35、0.28;0.47、0.21、0.34、0.14、0.45,P均>0.05)。采用Haploview软件进行连锁不平衡和单倍型分析,发现一个包括三个多态性位点(rs10133307、rs7145597和rs10873531)的单体域(D’=0.96~1.00)。单体域有三个单体型,分别是H1(AGA)、H2(GAG)、H3(AGG)。其H1频率为74.42%,H2频率为18.46%,H3频率为6.43%。结论HSP90AA1基因rs10133307、rs10873531、rs11547523、rs11621560和rs7145597五个位点多态性对精子DNA碎片率无明显影响。

Objective To investigate the association between sperm DNA fragmentation and HSP90AA1 gene polymorphism.Methods The sperm chromatin dispersion(SCD)method was used to detect sperm DNA fragmentation index(DFI).Five selected SNPs in HSP90AA1 gene(rs10133307,rs10873531,rs11547523,rs11621560,and rs7145597)were genotyped using the Sequenom Massarray assay.According to sperm DFI,patients were divided into two groups:DFI>22.75%group and DFI≤22.75%group.The semen volume,sperm concentration,motility,and morphology were compared.The grenotype and allele frequencies between different DFI were compared.Results The semen volume of DFI≤22.75%group was significantly smaller than that of DFI>22.75%group(t=-2.06,P<0.05).However,the sperm concentration,motility and morphology in DFI≤22.75%group were significantly higher than those in DFI>22.75%group(t=-5.33,-7.47,-5.21,P<0.05).No significant differences of genotype and allele frequencies between DFI>22.75%group and DFI≤22.75%group were found(χ^2=0.74,0.52,0.32,0.35,0.28;0.47,0.21,0.34,0.14,0.45,P>0.05).The three of the SNPs(rs10133307,rs7145597,and rs10873531)in HSPAA1 formed a haplotype block(D’0.96~1.00).There were three haplotypes(H1:AGA,H2:GAG,and H3:AGG)in this haplotype block with the frequencies of 74.42%,18.46%,and 6.43%,respectively.Conclusion The present study suggests that HSP90AA1 five SNPs(rs10133307,rs10873531,rs11547523,rs11621560,and rs7145597)may not be associated with sperm DNA fragmentation.