Evolution, Behaviour and Environment Group, School of Life Sciences, University of Sussex, Brighton, BN1 9QG, United Kingdom.
Centre d'Écologie Fonctionnelle et Évolutive, UMR 5175, CNRS, Université de Montpellier, École Pratique des Hautes Études, Montpellier, 34293, France.
Evolution. 2021 Dec;75(12):3087-3097. doi: 10.1111/evo.14394. Epub 2021 Nov 12.
An evolutionary model for sex differences in disease risk posits that alleles conferring higher risk in one sex may be protective in the other. These sexually antagonistic (SA) alleles are predicted to be maintained at frequencies higher than expected under purifying selection against unconditionally deleterious alleles, but there are apparently no examples in humans. Discipline-specific terminology, rather than a genuine lack of such alleles, could explain this disparity. We undertook a two-stage review of evidence for SA polymorphisms in humans using search terms from (i) evolutionary biology and (ii) biomedicine. Although the first stage returned no eligible studies, the second revealed 51 genes with sex-opposite effects; 22 increased disease risk or severity in one sex but protected the other. Those with net positive effects occurred at higher frequencies. None were referred to as SA. Our review reveals significant communication barriers to fields as a result of discipline-specific terminology.
一种关于疾病风险中性别差异的进化模型假设，在某个性别中赋予更高风险的等位基因可能在另一个性别中具有保护作用。这些性拮抗（SA）等位基因预计会以高于预期的频率被维持，因为它们会受到针对无条件有害等位基因的净化选择的影响，但在人类中显然没有这样的例子。专门学科的术语，而不是真正缺乏这种等位基因，可能解释了这种差异。我们使用（i）进化生物学和（ii） 生物医学的搜索术语，对人类中 SA 多态性的证据进行了两阶段审查。尽管第一阶段没有返回符合条件的研究，但第二阶段揭示了 51 个具有性别相反作用的基因；22 个基因在一个性别中增加了疾病风险或严重程度，但保护了另一个性别。那些具有净积极效果的基因出现的频率更高。没有一个被称为 SA。我们的审查揭示了由于专门学科的术语，导致不同领域之间存在着严重的沟通障碍。
