Aguilar-Gómez Diana, Bejder Jacob, Graae Jonathan, Ko Yelin, Vaughn Andrew, Clement Kendell, Tristani-Firouzi Martin, Lee Joo-Young, Nordsborg Nikolai B, Nielsen Rasmus, Ilardo Melissa
Ecology and Evolutionary Biology, University of California, Los Angeles, 612 Charles E. Young Drive South, Los Angeles, CA 90095, USA; Center for Computational Biology, University of California, Berkeley, Berkeley, CA 94720, USA.
Department of Nutrition, Exercise, and Sports, University of Copenhagen, Nørre Allé 51, 2200 Copenhagen, Denmark.
Cell Rep. 2025 May 27;44(5):115577. doi: 10.1016/j.celrep.2025.115577. Epub 2025 May 2.
Natural selection and relative isolation have shaped the genetics and physiology of unique human populations from Greenland to Tibet. Another such population is the Haenyeo, the all-female Korean divers renowned for their remarkable diving abilities in frigid waters. Apnea diving induces considerable physiological strain, particularly in females diving throughout pregnancy. In this study, we explore the hypothesis that breath-hold diving has shaped physiological and genetic traits in the Haenyeo. We identified pronounced bradycardia during diving, a likely training effect. We paired natural selection and genetic association analyses to investigate adaptive genetic variation that may mitigate the effects of diving on pregnancy through an associated reduction of diastolic blood pressure. Finally, we identified positively selected variation in a gene previously associated with cold water tolerance, which may contribute to reduced hypothermia susceptibility. These findings highlight the importance of traditional diving populations for understanding genetic and physiological adaptation.
自然选择和相对隔离塑造了从格陵兰到西藏等地独特人类群体的基因和生理特征。另一个这样的群体是海女，她们是全女性的韩国潜水者，以在寒冷水域出色的潜水能力而闻名。屏气潜水会引发相当大的生理压力，尤其是对整个孕期都进行潜水的女性而言。在本研究中，我们探讨了这样一个假说：屏气潜水塑造了海女的生理和遗传特征。我们发现潜水过程中出现明显的心动过缓，这可能是一种训练效应。我们将自然选择分析与基因关联分析相结合，以研究适应性基因变异，这种变异可能通过降低舒张压来减轻潜水对孕期的影响。最后，我们在一个先前与冷水耐受性相关的基因中鉴定出正选择变异，这可能有助于降低体温过低的易感性。这些发现凸显了传统潜水群体对于理解基因和生理适应性的重要性。
