Abstract
A recent study found that three recurrent deletions of X chromosome linked copy number variations (CNVs), CNV64, CNV67 and CNV69 were associated with idiopathic male infertility in Spanish and Italian populations, especially CNV67 resembling the azoospermia factor deletions. That merits further investigations among different populations. This study was conducted to examine the prevalence of the three CNVs deletions and their associations with idiopathic male infertility in Chinese Han population. The present study included a large population of 1550 Chinese Han subjects recruited between 2014 and 2016. In total, 714 infertile participants were diagnosed as idiopathic infertility with different conditions (288 with non-obstructive azoospermia, 210 oligozoospermia and 216 asthenospermia) and 836 fertile participants (vasectomized men). The fertile participants were recruited from the representative areas: the north (Hebei and Shanxi), center (Hubei and Jiangsu), and south (Guangdong) of China. All patients were recruited from Hubei province. A multiplex PCR system was established to screen the deletion of the three CNVs, and deletion was confirmed by general PCR. Similar rates of these deletions were observed in infertile men and fertile participants (Hubei), and among the different conditions of infertility. Moreover, CNV64 and CNV67 map distribution geographically differed across China. The three CNVs in fertile groups of other regions were similar, except for Guangdong. No association between the three CNVs deletions and idiopathic male infertility was observed. CNV67 is rare in central China, albeit large sample size study for confirmation is warranted. It seems that the association between these CNVs deletions and idiopathic male infertility is ethnic dependent. There is still need to screen the CNVs deletions in other ethnicities. We suggested to consider the stratification patterns and geographic differences when prescribing CNVs deletions screening as a test in male infertility.
Highlights
Male infertility afflicts up to 7% of men of reproductive age, whereas the etiology of more than half of the cases remains unidentified
Recent Genome Wide Associate Studies (GWAS) have shown some susceptibility loci that may explain some of the unclear genetic bases of idiopathic male infertility[4,5,6]
CNV67 deletion was only found in infertile patients, which seemed to standing much promising in future clinical application like the AZF deletions on the Y chromosome [25]
Summary
Male infertility afflicts up to 7% of men of reproductive age, whereas the etiology of more than half of the cases remains unidentified. This leads to the prevalent diagnosis of idiopathic male infertility [1]. Recent Genome Wide Associate Studies (GWAS) have shown some susceptibility loci that may explain some of the unclear genetic bases of idiopathic male infertility[4,5,6]. They are only a tip of the iceberg and large portions of genetic causes remain unknown [1]
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