Zhang Jin-Lan, Mao Gen-Hong, Huang Xiao-Hui, Chang Hong-Yang, Zheng Yi, Cao Xue
a Reproductive Medical Center, The Second Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
b Wuhan Institute of Dermatology and Venerology , Wuhan , China.
Syst Biol Reprod Med. 2018 Aug;64(4):266-273. doi: 10.1080/19396368.2018.1447616. Epub 2018 Mar 26.
The objective of this study was to explore the association of sperm mitochondrial ND2 (MT-ND2) gene variants with total fertilization failure (TFF). A retrospective comparative study of 246 cases of fresh in vitro fertilization (IVF) cycles or half-intracytoplasmic sperm injection cycles in the Han Chinese population was performed from July 2011 to May 2017. A total of 59 cases undergoing TFF, and 187 control cases with normal fertilization (fertilization rates >50%) were included. The sperm mitochondrial genovariation was determined using nested sequencing. A total of 32 homoplasmic variants and 47 heteroplasmic variants of MT-ND2 gene were observed in this study. There were no significant differences in the frequencies of the 32 homoplasmic variants of MT-ND2 gene between the TFF and control groups. A total of 53 pair-wise comparisons were performed, and the general characteristics of the IVF failure and control subjects were adjusted in logistic models. Data suggested that there were no significant differences in the frequencies of point 4914, 5320, and 5426 heteroplasmic variants of MT-ND2 gene between the TFF and control groups. In addition, no significant difference was observed in the frequency of mtDNA haplogroup D or haplogroup G between the IVF failure group and the normal fertilization group. This study suggests that the MT-ND2 gene variants might not be associated with TFF.
ATP: adenosine triphosphate; dNTP: deoxy-ribonucleoside triphosphate; FADH2: flavin adenine dinucleotide; FDR: false discovery rate; FSH: follicle-stimulating hormone; IVF: in vitro fertilization; LH: luteinizing hormone; MTATP6: mitochondrially encoded ATP synthase 6; MTCYB: mitochondrially encoded cytochrome b; mtDNA: mitochondrial DNA; MT-ND2: mitochondrial ND2; NADH: nicotinamide adenine dinucleotide; ND2: NADH dehydrogenase subunit 2; OXPHOS: oxidative phosphorylation; PCR: single nucleotide polymorphisms; SNPs: single nucleotide polymorphisms; TFF: total fertilization failure.
本研究的目的是探讨精子线粒体ND2（MT-ND2）基因变异与完全受精失败（TFF）之间的关联。对2011年7月至2017年5月期间汉族人群的246例新鲜体外受精（IVF）周期或半卵胞浆内单精子注射周期进行了回顾性对照研究。共纳入59例发生完全受精失败的患者，以及187例受精正常（受精率>50%）的对照病例。使用巢式测序法测定精子线粒体基因变异。本研究共观察到MT-ND2基因的32个纯质变异和47个杂质变异。MT-ND2基因的32个纯质变异在完全受精失败组和对照组之间的频率无显著差异。共进行了53次成对比较，并在逻辑模型中对IVF失败组和对照组的一般特征进行了调整。数据表明，MT-ND2基因的4914、5320和5426位点杂质变异在完全受精失败组和对照组之间的频率无显著差异。此外，IVF失败组和正常受精组之间的线粒体DNA单倍群D或单倍群G频率无显著差异。本研究表明，MT-ND2基因变异可能与完全受精失败无关。
ATP：三磷酸腺苷；dNTP：脱氧核糖核苷三磷酸；FADH2：黄素腺嘌呤二核苷酸；FDR：错误发现率；FSH：促卵泡激素；IVF：体外受精；LH：黄体生成素；MTATP6：线粒体编码的ATP合酶6；MTCYB：线粒体编码的细胞色素b；mtDNA：线粒体DNA；MT-ND2：线粒体ND2；NADH：烟酰胺腺嘌呤二核苷酸；ND2：NADH脱氢酶亚基2；OXPHOS：氧化磷酸化；PCR：单核苷酸多态性；SNPs：单核苷酸多态性；TFF：完全受精失败
