Department of Psychology, University of Pittsburgh, United States of America; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, United States of America; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, United States of America.
Department of Psychology, University of Pittsburgh, United States of America.
Schizophr Res. 2022 Aug;246:39-48. doi: 10.1016/j.schres.2022.05.012. Epub 2022 Jun 13.
Cognition shares substantial genetic overlap with schizophrenia, yet it remains unclear whether such genetic effects become significant during developmental periods of elevated risk for schizophrenia, such as the peak age of onset. We introduce an investigative framework integrating epidemiological, developmental, and genetic approaches to determine whether genetic effects shared between schizophrenia and cognition are significant across periods of differing risk for schizophrenia onset, and whether these effects are shared with depression. 771 European-American participants, including 636 (ages 15-84 years) from families with at least two first-degree relatives with schizophrenia and 135 unrelated controls, were divided into three age-risk groups based on ages relative to epidemiological age of onset patterns for schizophrenia: Pre-Peak (before peak age-of-onset: 15 to 22 years), Post-Peak (after peak age-of-onset: 23-42 years), and Plateau (during plateau of age-of-onset: over 42 years). For general cognition and 11 specific cognitive traits, we estimated genetic correlations with schizophrenia and with depression within each age-risk group. Genetic effects shared between deficits in general cognition and schizophrenia were nonsignificant before peak age of onset, yet were high and significant after peak age of onset and during the plateau of onset. These age-dependent genetic effects were largely consistent across specific cognitive traits and not transdiagnostically shared with depression. Schizophrenia genetic effects appear to influence cognitive traits in an age-dependent manner, supporting late developmental and perhaps neurodegenerative models that hypothesize increased expression of schizophrenia risk genes during and after the peak age of risk. Our findings underscore the utility of cognitive traits for tracking schizophrenia genetic effects across the lifespan.
认知与精神分裂症有大量的遗传重叠,但目前尚不清楚这些遗传效应是否在精神分裂症发病风险增加的发育期间变得显著,例如发病的高峰年龄。我们引入了一个综合流行病学、发育和遗传方法的研究框架,以确定精神分裂症和认知之间共享的遗传效应是否在不同精神分裂症发病风险期显著,以及这些效应是否与抑郁症共享。771 名欧洲裔美国人参与者,包括 636 名(年龄在 15-84 岁之间)来自至少有两个一级亲属患有精神分裂症的家庭和 135 名无关对照者,根据年龄相对于精神分裂症发病的流行病学年龄模式分为三个年龄风险组:发病前高峰(发病高峰前:15 至 22 岁)、发病后高峰(发病高峰后:23-42 岁)和平台期(发病高峰后:42 岁以上)。对于一般认知和 11 种特定认知特征,我们在每个年龄风险组中估计了与精神分裂症和抑郁症的遗传相关性。在发病高峰前,一般认知缺陷与精神分裂症之间共享的遗传效应不显著,但在发病高峰后和发病平台期,遗传效应显著且显著。这些依赖年龄的遗传效应在很大程度上跨越了特定的认知特征,并且与抑郁症没有跨诊断共享。精神分裂症的遗传效应似乎以依赖年龄的方式影响认知特征,支持了晚期发育和神经退行性假说,即精神分裂症风险基因在发病高峰期间和之后表达增加。我们的研究结果强调了认知特征在整个生命周期中跟踪精神分裂症遗传效应的效用。