Recurrent deletions of the X chromosome linked CNV64, CNV67, and CNV69 shows geographic differences across China and no association with idiopathic infertility in men.
Recurrent deletions of the X chromosome linked CNV64, CNV67, and CNV69 shows geographic differences across China and no association with idiopathic infertility in men.
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DOI：
10.1371/journal.pone.0185084
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Li H
中科院分区：
文献类型：
--
作者：
Ma X;Kuete M;Gu X;Zhou H;Xiong C;Li H
最近的一项研究发现，在西班牙和意大利人群中，X染色体连锁拷贝数变异(CNV64、CNV67和CNV69)的三个重复缺失与特发性男性不育有关，特别是与无精症因子缺失类似的CNV67。这值得在不同人群中进行进一步的研究。本研究旨在探讨中国汉族人群中3种CNV基因缺失的发生率及其与特发性男性不育的关系。本研究包括2014-2016年间招募的1550名中国汉族受试者。总共有714名不育患者被诊断为不同情况的特发性不育患者(非梗阻性无精子症288例，少精子症210例，弱精子症216例)和836名有生育能力的患者(输精管结扎术男性)。受试者来自具有代表性的地区：北部(河北和山西)、中部(湖北和江苏)和南部(广东)中国。所有患者均来自湖北省。建立多重聚合酶链式反应体系，对3个CNV基因的缺失进行筛查，并用普通聚合酶链式反应确认缺失。这些缺失率在不育男性和有生育能力的参与者(湖北)以及不同的不育条件之间也观察到了相似的比率。此外，中国地区的CNV64和CNV67地图分布也存在地理差异。除广东外，其他地区育性群体中的三个CNV相似。未观察到三种CNV基因缺失与特发性男性不育之间的关系。CNV67在中国中心是罕见的，尽管有必要进行大样本研究来证实。这些CNV基因缺失与特发性男性不育之间的关联似乎与种族有关。仍然需要在其他种族中筛选CNV缺失。我们建议在对男性不育患者进行CNVS缺失筛查时，应考虑分层模式和地理差异。
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.
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影响因子：
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作者：
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通讯作者：
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影响因子：
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作者：
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DOI：
10.1210/jc.2009-1029
发表时间：
2009-10
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
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作者：
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