在“大数据”时代，挖掘生殖遗传学和表观遗传学在男性不育症中的全部潜能。
Harnessing the full potential of reproductive genetics and epigenetics for male infertility in the era of "big data".
机构信息
Division of Urology, Department of Surgery, School of Medicine, University of Utah, Salt Lake City, Utah.
Division of Urology, Department of Surgery, School of Medicine, University of Utah, Salt Lake City, Utah; Department of Physiology and Developmental Biology, Brigham Young University, Provo, Utah.
出版信息
Fertil Steril. 2020 Mar;113(3):478-488. doi: 10.1016/j.fertnstert.2020.01.001. Epub 2020 Feb 20.
Abstract
The complexity of male reproductive impairment has hampered characterization of the underlying genetic causes of male infertility. However, in the last 20 years, more powerful and affordable tools to interrogate the genetic and epigenetic determinants of male infertility have accelerated the number of new discoveries in the characterization of male infertility. With this explosion of new data, integration in a systems-based approach-including complete phenotypic information-to male infertility is imperative. We briefly review the current understanding of genetic and epigenetic causes of male infertility and how findings may be translated into a practical component for the diagnosis and treatment of male infertility.
摘要
男性生殖障碍的复杂性阻碍了对男性不育潜在遗传原因的描述。然而，在过去的 20 年中，更强大且经济实惠的工具可用于探究男性不育的遗传和表观遗传决定因素，这加速了男性不育特征描述方面的新发现数量。随着这些新数据的大量涌现，必须将男性不育的系统方法（包括完整的表型信息）进行整合。我们简要回顾了当前对男性不育遗传和表观遗传原因的理解，以及这些发现如何转化为男性不育诊断和治疗的实用组成部分。
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