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多囊卵巢综合征的进化决定因素:第 2 部分。

Evolutionary determinants of polycystic ovary syndrome: part 2.

机构信息

Department of Anthropology and Center for Behavior, Evolution, and Culture, University of California, Los Angeles, Los Angeles, California.

Department of Medicine, Department of Ecology and Evolutionary Biology, and the Evolutionary Medicine Program, University of California, Los Angeles, Los Angeles, California.

出版信息

Fertil Steril. 2016 Jul;106(1):42-47. doi: 10.1016/j.fertnstert.2016.05.016. Epub 2016 May 28.

Abstract

Polycystic ovary syndrome (PCOS) is a prehistoric complex genetic trait, perhaps dating back at least 50,000 years. The disorder also represents an evolutionary paradox, demonstrating clear reproductive disadvantages (i.e., lack of evolutionary fitness), albeit persisting tens of thousands of years. Here we examine possible explanations for this paradox. We evaluate a variety of possible benefits accruing to women in ancestral populations who possessed this trait, including considerations of whether dramatic changes in environment and lifestyle from the ancestral past to the contemporary present have altered the selection dynamics operating on the trait. Putative benefits include metabolic functioning, immune system dynamics, patterns of child-rearing and mothering, reproductive longevity, in utero or childhood survival, and musculoskeletal advantages. However, there is limited evidence that the persistence and relative homogeneity in the prevalence of PCOS can be accounted for by direct positive selection. Rather, PCOS evolution has likely been driven by nonadaptive evolutionary mechanisms, including genetic drift due to a serial founder effect and population balance due to sexually antagonistic selection. Ultimately, insights into the evolutionary origins of PCOS will emerge through the study not only of unique characteristics of affected individuals and their environments butalso through a broad consideration of the potential adaptive and beneficial aspects of vulnerability to the disorder, importantly including examination of populations whose fertility, disease load, and diet resemble those of ancestral humans.

摘要

多囊卵巢综合征(PCOS)是一种史前的复杂遗传特征,其起源可能至少可以追溯到 5 万年前。该疾病还代表了一个进化悖论,尽管它存在了数万年,但它显然存在生殖劣势(即缺乏进化适应性)。在这里,我们探讨了这种悖论的可能解释。我们评估了具有这种特征的女性在祖先种群中可能获得的各种益处,包括考虑从祖先时代到现代环境和生活方式的急剧变化是否改变了对该特征起作用的选择动态。推测的益处包括代谢功能、免疫系统动态、育儿和母性模式、生殖寿命、宫内或儿童期生存以及肌肉骨骼优势。然而,有限的证据表明,PCOS 的持续存在和相对同质性可以通过直接正向选择来解释。相反,PCOS 的进化可能是由非适应性进化机制驱动的,包括由于连续奠基者效应导致的遗传漂变和由于性拮抗选择导致的种群平衡。最终,通过研究不仅受影响个体及其环境的独特特征,而且还通过广泛考虑对该疾病易感性的潜在适应性和有益方面,包括检查那些生育能力、疾病负担和饮食与祖先人类相似的人群,将深入了解 PCOS 的进化起源。

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