Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population
Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population
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DOI：
10.1136/jmg.2007.054478
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发表时间：
2007-12
影响因子：
4
通讯作者：
Yuan Yang;M. Ma;Lei Li;Wei Zhang;Cuiying Xiao;Shangwei Li;Yongxin Ma;D. Tao;Yunqiang Liu;Li Lin;Si-zhong Zhang
中科院分区：
文献类型：
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作者：
Yuan Yang;M. Ma;Lei Li;Wei Zhang;Cuiying Xiao;Shangwei Li;Yongxin Ma;D. Tao;Yunqiang Liu;Li Lin;Si-zhong Zhang
简介：由于频繁的结构重排，Y染色体在遗传上高度可变。这些变异可能为Y染色体相关的生精障碍的易感性创造了遗传背景，尽管关于Y染色体单倍型与男性生精障碍易感性之间可能的相关性的数据很少。目的：探讨Y染色体背景与生精障碍的关系。研究方法：本文比较了414例中国西南地区无精子症或少精子症不育男性和262例AZFc缺失或缺失的正常精子症男性的18个Y染色体单倍群的分布。结果如下：Y单倍群分布在正常精子症组与无精子症组或少精子症组之间以及无AZFc缺失的少精子症组与无精子症组之间存在显著的人群差异。Y单倍群频率的群体间比较显示，C、K* 和O3* 单倍群的分布在群体间存在显著差异。结论：本研究为Y染色体背景与精子发生障碍的关系提供了证据，提示Y染色体变异在精子发生障碍的发生甚至严重程度中起作用。此外，AZFc缺失和其他Y染色体结构变异可能对确定生精障碍的易感性很重要。我们的研究结果强调了对Y染色体变异进行更广泛研究的必要性，以便更好地了解精子发生及其病理学。
Introduction: Y chromosomes are genetically highly variable due to frequent structural rearrangements. The variations may create a genetic background for the susceptibility to Y-related spermatogenic impairment, although few data have been accumulated about the possible correlation between the Y-chromosome haplotype and the predisposition of men to spermatogenic failure. Objective: To investigate the possible association of Y-chromosome background with spermatogenic failure. Methods: The distribution of 18 Y-chromosome haplogroups was compared between 414 infertile men with azoospermia or oligozoospermia and 262 normozoospermic men with or without AZFc deletions in a Han population of Southwest China. Results: A significant population difference in Y-haplogroup distribution was found between the groups of normozoospermia and azoospemia or oligozoospermia, and between the patient groups with oligozoospermia and azoospermia without AZFc deletions. Interpopulation comparison of Y haplogroup frequencies showed that the distribution of the haplogroups C, K* and O3* were significantly different between the groups. Conclusion: This study provides evidence for the association of Y-chromosome background with impaired spermatogenesis, suggesting that Y variations play a role in the occurrence and even the severity of spermatogenic failure. Furthermore, both AZFc deletions and other Y-chromosome structural variations may be important for determining the susceptibility to spermatogenic failure. Our findings emphasise the necessity of more extensive study on Y-chromosome variations for better understanding of spermatogenesis and its pathology.