Biological sex: why we should listen to genetics and lessons from race to guide precision medicine.

IF 2.5 4区 生物学 Q3 CELL BIOLOGY
Physiological genomics Pub Date : 2025-10-01 Epub Date: 2025-08-21 DOI:10.1152/physiolgenomics.00065.2025
Jeremy W Prokop
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引用次数: 0
生理性别:为什么我们应该听取遗传学和种族教训来指导精准医疗。
生理性别通常被认为是直截了当的,导致对男性和女性的广义定义。然而,分子遗传学揭示了涉及性别决定、激素调节和第二性征发育的基因调控的复杂性。基因变异可以以不同的方式影响这些途径。由于常用的基于常染色体的统计方法的局限性,以及缺乏针对人类第二性征异质性的研究,性别和性别认同知识的遗传基础进一步复杂化。由于注意到的问题而缺乏遗传数据可能会导致过度简化的公共叙述的传播。监管框架的模糊性可能导致进一步的法律和伦理问题。在种族遗传学中也出现了类似的动态,科学复杂性被应用于临床护理,以避免将任何人口统计学群体过度概括为个体。遗传学和临床遗传学领域将祖先和个人遗传见解视为比混合分类(种族或性别)更强大的临床应用框架,从而增加了对遗传变异遗传及其生物学影响的关注。当祖先和个人遗传见解可用时,混合分类器的使用必须从临床决策中分离出来。生理基因组学社区应该对过度简化保持警惕,以保障精准和个性化医疗的持续进步。鉴于性别差异影响几乎所有疾病和生理过程,这一领域未解决的不确定性可能会严重阻碍生理基因组学和患者护理的进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Physiological genomics
Physiological genomics 生物-生理学
CiteScore
6.10
自引率
0.00%
发文量
46
审稿时长
4-8 weeks
期刊介绍: The Physiological Genomics publishes original papers, reviews and rapid reports in a wide area of research focused on uncovering the links between genes and physiology at all levels of biological organization. Articles on topics ranging from single genes to the whole genome and their links to the physiology of humans, any model organism, organ, tissue or cell are welcome. Areas of interest include complex polygenic traits preferably of importance to human health and gene-function relationships of disease processes. Specifically, the Journal has dedicated Sections focused on genome-wide association studies (GWAS) to function, cardiovascular, renal, metabolic and neurological systems, exercise physiology, pharmacogenomics, clinical, translational and genomics for precision medicine, comparative and statistical genomics and databases. For further details on research themes covered within these Sections, please refer to the descriptions given under each Section.
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