Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men
Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men
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DOI：
10.1016/j.repbio.2022.100728
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发表时间：
2023-01-12
影响因子：
2.1
通讯作者：
Sato, Youichi
中科院分区：
文献类型：
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作者：
Nakagawa, Yusuke;Tada, Atsushi;Sato, Youichi
位于Y染色体长臂上的无精子因子c（AZFc）的缺失是男性不育的一个原因。Y染色体的结构通过各种基因的拷贝数而多样化，例如位于AZF区域的无精子症缺失（DAZ）、碱性蛋白Y2、染色体结构域Y1、睾丸特异性转录物Y-连锁4和高尔基体自身抗原高尔基体亚家族a2样Y。在这项研究中，我们调查了每个基因拷贝的缺失，并分析了其与日本男性不育的关系。通过聚合酶链反应-限制性片段长度多态性分析，分析了721例正常生育男性、139例非梗阻性无精子症（NOA）患者和56例少精子症（OS）患者每个基因拷贝的单核苷酸变异的缺失情况。采用Logistic回归分析对Y染色体单倍型组D1 a2 a进行校正，分析其与不孕症的关系。r1区DAZ/II缺失和r1、r2区DAZ/V缺失与NOA显著相关（比值比[OR] = 4.15，95%置信区间[CI] = 1.18-14.6，P = 0.026; OR = 4.19，95% CI = 1.19-14.7，P = 0.025）。他们没有表现出任何关联与OS。部分缺失的AZFc区影响精子发生在日本男性。
Deletion of the azoospermia factor c (AZFc), located on the long arm of the Y chromosome, is a cause of male infertility. The structure of the Y chromosome is diversified by the copy number of various genes, such as deleted in azoospermia (DAZ), basic protein Y2, chromodomain Y1, testis-specific transcript Y-linked 4, and Golgi autoantigen golgin subfamily a2 like Y, located in the AZF region. In this study, we investigated the deletion of each gene copy and analyzed its relationship with Japanese male infertility. Deletions of single nucleotide variants of each gene copy in 721 proven fertile men as controls, 139 patients with non-obstructive azoospermia (NOA), and 56 patients with oligozoospermia (OS) were analyzed via polymerase chain reaction-restriction fragment length polymorphism analysis. Their association with infertility was analyzed using logistic regression analysis adjusted for the Y-chromosome haplogroup, D1a2a. Deletions of DAZ/II in the r1 region and DAZ/V in the r1 and r2 regions showed significant associations with NOA (odds ratio [OR] = 4.15, 95 % confidence interval [CI] = 1.18-14.6, P = 0.026; OR = 4.19, 95 % CI = 1.19-14.7, P = 0.025, respectively). They did not show any association with OS. Partial deletion of the AZFc region affects spermatogenesis in Japanese male.