Ma Xiulan, Kuete Martin, Gu Xiuli, Zhou Hui, Xiong Chengliang, Li Honggang
Family Planning Research Institute/Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
University of Montagnes, Faculty of Health Sciences, Bangante, Cameroon.
PLoS One. 2017 Sep 21;12(9):e0185084. doi: 10.1371/journal.pone.0185084. eCollection 2017.
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.
最近一项研究发现，X染色体连锁拷贝数变异（CNV）的三个复发性缺失，即CNV64、CNV67和CNV69，与西班牙和意大利人群的特发性男性不育症相关，尤其是CNV67类似于无精子症因子缺失。这值得在不同人群中进一步研究。本研究旨在检测这三种CNV缺失在中国汉族人群中的患病率及其与特发性男性不育症的关联。本研究纳入了2014年至2016年招募的1550名中国汉族受试者的大量样本。总共714名不育参与者被诊断为患有不同情况的特发性不育症（288例非梗阻性无精子症、210例少精子症和216例弱精子症），以及836名生育力正常的参与者（输精管结扎术男性）。生育力正常的参与者来自中国具有代表性的地区：北方（河北和山西）、中部（湖北和江苏）和南方（广东）。所有患者均来自湖北省。建立了多重PCR系统来筛查这三种CNV的缺失，并通过普通PCR进行确认。在不育男性和生育力正常的参与者（湖北）中，以及在不同不育情况中，观察到这些缺失的发生率相似。此外，CNV64和CNV67在中国的地理图谱分布有所不同。除广东外，其他地区生育力正常组中的三种CNV相似。未观察到这三种CNV缺失与特发性男性不育症之间存在关联。CNV67在中国中部很少见，尽管需要进行大样本量研究以进行确认。这些CNV缺失与特发性男性不育症之间的关联似乎因种族而异。仍需要对其他种族进行CNV缺失筛查。我们建议在将CNV缺失筛查作为男性不育症检测方法时，考虑分层模式和地理差异。
