Association between sperm MT-COX1 gene variations and semen quality in the Chinese Han population

Backgroud Male sperm quality has declined as a whole in the last 30 years and our previous study found that there are many specific variations in male sperm mitochondria, including MT-COX1. In this study we attempted to explore the correlation between human sperm MT-COX1 gene variations and male semen quality in a Chinese Han population. Methods: and results There were 477 male patients from the Second Affiliated Hospital of Zhengzhou University from 2010 to 2021, of whom 331 were retrospective studies and 146 were prospective studies. And 4 oligoasthenoteratospermia samples and 13 normal sperm samples were collected for low-throughput sequencing of the whole human genome. The semen samples were divided into three groups according to the types of genetic variation at the m.6023G>A locus: G/G genotype (wild type), G/A genotype and A/A genotype. The results of a prospective study show that the A/A genotype had higher sperm density and motility than the G allele carrier (G/G+G/A). And DNAAF6 gene variation may be associated with oligoasthenoteratospermia, the upstream of the 107243978 position of DNAAF6 gene variation might have the binding of hsa-miR-4311 to the 3'UTR of DNAAF6 gene. Conclusions: We first found that the MT-COX1 gene of spermatozoa of the Chinese Han population has varied since 2014. Furthermore, the A/A genotype had better sperm quality than the G allele carriers (G/G+G/A), and the 107243978 position variation of the DNAAF6 gene might affect the gene expression by affecting the stability of transcripts.