Bristol Medical School, University of Bristol, Bristol BS8 1QU, UK.
Medical Research Council (MRC) Epidemiology Unit, University of Cambridge, Cambridge CB2 0SL, UK.
Genes (Basel). 2020 Oct 29;11(11):1273. doi: 10.3390/genes11111273.
The Human Y chromosome (ChrY) has been demonstrated to be a powerful tool for phylogenetics, population genetics, genetic genealogy and forensics. However, the importance of ChrY genetic variation in relation to human complex traits is less clear. In this review, we summarise existing evidence about the inherent complexities of ChrY variation and their use in association studies of human complex traits. We present and discuss the specific particularities of ChrY genetic variation, including Y chromosomal haplogroups, that need to be considered in the design and interpretation of genetic epidemiological studies involving ChrY.
人类 Y 染色体（ChrY）已被证明是系统发生学、群体遗传学、遗传家谱学和法医学的有力工具。然而，ChrY 遗传变异与人类复杂特征的相关性的重要性尚不清楚。在这篇综述中，我们总结了现有的关于 ChrY 变异的固有复杂性及其在人类复杂特征关联研究中的应用的证据。我们提出并讨论了 ChrY 遗传变异，包括 Y 染色体单倍群，在涉及 ChrY 的遗传流行病学研究的设计和解释中需要考虑的具体特点。
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