The Y chromosome is the most gene-deficient chromosome in the human genome (though not the smallest chromosome) and has largely been sequestered away from large-scale studies of the effects of genetics on human health. Here I review the literature, focusing on the last 2 years, for recent evidence of the role of the Y chromosome in protecting from or contributing to disease. Although many studies have focused on Y chromosome gene copy number and variants in fertility, the role of the Y chromosome in human health is now known to extend too many other conditions including the development of multiple cancers and Alzheimer’s disease. I further include the discussion of current technology and methods for analyzing Y chromosome variation. The true role of the Y chromosome and associated genetic variants in human disease will only become clear when the Y chromosome is integrated into larger studies of human genetic variation, rather than being analyzed in isolation.

中文翻译：

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Y染色体及其对健康和疾病的影响


Y染色体是人类基因组中基因缺陷最严重的染色体（尽管不是最小的染色体），并且在很大程度上被排除在遗传学对人类健康影响的大规模研究之外。在这里，我回顾了文献，重点关注过去两年的文献，以获取有关 Y 染色体在预防或促进疾病方面作用的最新证据。尽管许多研究都集中在 Y 染色体基因拷贝数和变异对生育能力的影响，但现在已知 Y 染色体在人类健康中的作用会导致许多其他疾病，包括多种癌症和阿尔茨海默病的发展。我进一步讨论了当前分析 Y 染色体变异的技术和方法。只有当 Y 染色体被整合到人类遗传变异的更大规模研究中，而不是孤立地进行分析时，Y 染色体和相关遗传变异在人类疾病中的真正作用才会变得清晰。