Abnormal Genes Related to the Structure of Sperm Flagellar Axoneme and Asthenozoospermia

Sperm flagellar axoneme is the main power source of sperm motility. Gene mutations involved in flagellar assembly and motility regulation can lead to decreased sperm motility, resulting in ASZ (asthenozoospermia). There are two common types of asthenozoospermia: (1) no obvious deformity of sperm flagella undeoptical microscope; (2) MMAF (multiple morphological abnormalities of the sperm flagella). Asthenozoospermia is mainly caused by mutations in genes encoding axoneme components. In the past decade, significant progress has been made in revealing pathogenic genes. In the field of genetic research of MMAF, China and France are the two most widely involved countries. Through systematic literature search and meta-analysis of MMAF gene mutation studies in China and France, 1 796 infertile male participants were included. The results showed that the proportion of DNAH1 gene mutation in Chinese asthenozoospermia patients was significantly higher than that in France (OR=4.97, 95% CI=[1.70; 14.49], P<0.01). However, CFAP43, CFAP44, CFAP251 and other genes showed no significant difference between the two countries (P>0.05). This finding lays a foundation for understanding the diversity of genetic variations in asthenozoospermia.