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本文引用的文献

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The impact of rare protein coding genetic variation on adult cognitive function.稀有蛋白编码基因突变对成人认知功能的影响。
Nat Genet. 2023 Jun;55(6):927-938. doi: 10.1038/s41588-023-01398-8. Epub 2023 May 25.
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Cognitive performances across individuals at high genetic risk for schizophrenia, high genetic risk for bipolar disorder, and low genetic risks: a combined polygenic risk score approach.精神分裂症高遗传风险个体、双相情感障碍高遗传风险个体和低遗传风险个体的认知表现:联合多基因风险评分方法。
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A cross-disorder dosage sensitivity map of the human genome.人类基因组的跨疾病剂量敏感性图谱。
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Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort.拷贝数变异风险评分与费城神经发育队列青少年的认知、精神病理学和大脑结构的关联。
JAMA Psychiatry. 2022 Jul 1;79(7):699-709. doi: 10.1001/jamapsychiatry.2022.1017.
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Associations of emotion recognition, loneliness, and social functioning in euthymic patients with bipolar disorder.双相障碍缓解期患者的情绪识别、孤独感和社会功能的相关性。
Kaohsiung J Med Sci. 2022 Jul;38(7):703-711. doi: 10.1002/kjm2.12539. Epub 2022 Apr 8.
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.对超过 40000 例双相情感障碍病例的全基因组关联研究为其潜在生物学机制提供了新的见解。
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Genetic Overlap Profiles of Cognitive Ability in Psychotic and Affective Illnesses: A Multisite Study of Multiplex Pedigrees.精神疾病和情感障碍认知能力的遗传重叠特征:多部位研究的多系谱分析。
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Genetic analysis of intellectual disability and autism.智力障碍和自闭症的遗传学分析。
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The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
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The genetics of bipolar disorder.双相情感障碍的遗传学。
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一个家庭样本中认知与双相情感障碍的独立遗传。

Independent inheritance of cognition and bipolar disorder in a family sample.

作者信息

D'Amico Alexander, Sung Heejong, Arbona-Lampaya Alejandro, Freifeld Ally, Hosey Katie, Garcia Joshua, Lacbawan Ley, Besançon Emily, Kassem Layla, Akula Nirmala, Knowles Emma E M, Dickinson Dwight, McMahon Francis J

机构信息

Intramural Research Program, National Institute of Mental Health, NIH, DHHS, Bethesda, Maryland, USA.

Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2025 Jan;198(1):e33001. doi: 10.1002/ajmg.b.33001. Epub 2024 Jul 16.

DOI:10.1002/ajmg.b.33001
PMID:39011872
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12088826/
Abstract

Cognitive deficits in people with bipolar disorder (BD) may be the result of the illness or its treatment, but they could also reflect genetic risk factors shared between BD and cognition. We investigated this question using empirical genetic relationships within a sample of patients with BD and their unaffected relatives. Participants with bipolar I, II, or schizoaffective disorder ("narrow" BD, n = 69), related mood disorders ("broad" BD, n = 135), and their clinically unaffected relatives (n = 227) completed five cognitive tests. General cognitive function (g) was quantified via principal components analysis (PCA). Heritability and genetic correlations were estimated with SOLAR-Eclipse. Participants with "narrow" or "broad" diagnoses showed deficits in g, although affect recognition was unimpaired. Cognitive performance was significantly heritable (h = 0.322 for g, p < 0.005). Coheritability between psychopathology and g was small (0.0184 for narrow and 0.0327 for broad) and healthy relatives of those with BD were cognitively unimpaired. In this family sample, cognitive deficits were present in participants with BD but were not explained by substantial overlaps in genetic determinants of mood and cognition. These findings support the view that cognitive deficits in BD are largely the result of the illness or its treatment.

摘要

双相情感障碍(BD)患者的认知缺陷可能是该疾病本身或其治疗的结果,但它们也可能反映了BD与认知之间共有的遗传风险因素。我们在一组BD患者及其未患病亲属中利用实证遗传关系对这一问题进行了调查。患有I型、II型双相情感障碍或分裂情感性障碍(“狭义”BD,n = 69)、相关情绪障碍(“广义”BD,n = 135)的参与者及其临床未患病亲属(n = 227)完成了五项认知测试。通过主成分分析(PCA)对一般认知功能(g)进行量化。使用SOLAR-Eclipse估计遗传力和遗传相关性。患有“狭义”或“广义”诊断的参与者在g方面存在缺陷,尽管情感识别未受损害。认知表现具有显著的遗传性(g的h = 0.322,p < 0.005)。精神病理学与g之间的共同遗传力较小(狭义为0.0184,广义为0.0327),BD患者的健康亲属在认知方面未受损。在这个家系样本中,BD患者存在认知缺陷,但情绪和认知的遗传决定因素的大量重叠并不能解释这些缺陷。这些发现支持了这样一种观点,即BD中的认知缺陷很大程度上是该疾病本身或其治疗的结果。