Department of Obstetrics & Gynaecology, Saarland University, Homburg, Saar, Germany.
Department of Basic Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, 21163, Jordan.
Mol Biol Rep. 2022 Nov;49(11):10229-10238. doi: 10.1007/s11033-022-07884-2. Epub 2022 Sep 6.
An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defined as male infertility. It is reported that 30-40% of males in their reproductive years have abnormalities in sperm production, either qualitatively or quantitatively, or both. However, genetic factors result in up to 15% of male infertility cases. The present study aimed to analyze the possible correlations between sub-fertility and polymorphisms in sperm mitochondrial CO3, ATP6 and ATP8 genes in sub-fertile men.
For 67 sub-fertile and 44 fertile male samples, Sanger sequencing of selected mitochondrial DNA genes was done. A total of twelve SNPs in the MT-CO3 gene: rs2248727, rs7520428, rs3134801, rs9743, rs28358272, rs2853824, rs2856985, rs2854139, rs41347846, rs28380140, rs3902407, and 28,411,821, fourteen SNPs in the MT-ATP6: rs2001031, rs2000975, rs2298011, rs7520428, rs9645429, rs112660509, rs6650105, rs6594033, rs6594034, rs6594035, rs3020563, rs28358887, rs2096044, and rs9283154, and ten SNPs in the MT-ATP8: rs9285835, rs9285836, rs9283154, rs8179289, rs121434446, rs1116906, rs2153588, rs1116905, rs1116907, and rs3020563 were detected in the case and control groups at different nucleotide positions. Only the rs7520428 in the MT-CO3 and MT-ATP6 showed a statistically significant difference between sub-fertile and fertile groups in the genotype's and allele's frequency test (P < 0.0001 for both).
The results of our study suggest that male sub-fertility is linked with rs7520428 SNP in MT-CO3 and MT-ATP6. The studied polymorphic variations in the MT-ATP8 gene, on the contrary, did not reveal any significant association with male sub-fertility.
男性在无保护性行为一年后仍无法使潜在可育女性怀孕，即被定义为男性不育。据报道，30%-40%的生育期男性的精子生成存在质或量或两者兼有的异常。然而，遗传因素导致多达 15%的男性不育病例。本研究旨在分析精子线粒体 CO3、ATP6 和 ATP8 基因亚不育与多态性之间的可能相关性。
对 67 名亚不育男性和 44 名正常生育男性的样本进行了选定线粒体 DNA 基因的 Sanger 测序。在 MT-CO3 基因中发现了总共 12 个 SNP：rs2248727、rs7520428、rs3134801、rs9743、rs28358272、rs2853824、rs2856985、rs2854139、rs41347846、rs28380140、rs3902407 和 28411821。在 MT-ATP6 基因中发现了 14 个 SNP：rs2001031、rs2000975、rs2298011、rs7520428、rs9645429、rs112660509、rs6650105、rs6594033、rs6594034、rs6594035、rs3020563、rs28358887、rs2096044 和 rs9283154。在 MT-ATP8 基因中发现了 10 个 SNP：rs9285835、rs9285836、rs9283154、rs8179289、rs121434446、rs1116906、rs2153588、rs1116905、rs1116907 和 rs3020563。在不同的核苷酸位置，在病例组和对照组中检测到这些基因中的 SNP。只有 MT-CO3 和 MT-ATP6 中的 rs7520428 在基因型和等位基因频率测试中在亚不育组和正常生育组之间存在统计学显著差异（两者均为 P<0.0001）。
我们的研究结果表明，男性亚不育与 MT-CO3 和 MT-ATP6 中的 rs7520428 SNP 有关。相反，在 MT-ATP8 基因中研究的多态性变化与男性亚不育没有明显关联。
