Abstract:
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.
摘要:
疾病风险性别差异的进化模型认为,在一种性别中赋予较高风险的等位基因在另一种性别中可能具有保护性。在针对无条件有害等位基因的纯化选择下,这些性拮抗(SA)等位基因预计将保持在高于预期的频率。但是人类显然没有例子。特定学科的术语,而不是真正缺乏这样的等位基因,可以解释这种差异。我们使用来自(i)进化生物学和(ii)生物医学的搜索词对人类SA多态性的证据进行了两阶段审查。虽然第一阶段没有返回合格的研究,第二个揭示了51个具有性别相反效应的基因;22个增加了一种性别的疾病风险或严重程度,但保护了另一种。那些具有净正效应的发生频率较高。没有一个被称为SA。我们的审查揭示了由于特定学科的术语而导致的对领域的重大沟通障碍。