Abdellaoui A, Verweij K J H
Tijdschr Psychiatr. 2022;64(5):260-265.
For centuries, it has been suspected that the vulnerability to psychiatric problems might be heritable. In the 20th century, this was confirmed through twin and family studies, with heritability estimates ranging from ~30-40% for posttraumatic stress disorder and major depression to ~80 for schizophrenia and autism. In the 21st century, genome-wide association studies (GWASs) were introduced, a hypothesis-free design capable of locating DNA associations.
AIM: To describe the development of genetic research in psychiatry.
METHOD: Overview of selected literature.
RESULTS: Increasingly larger GWASs show that the risk for psychiatric disorders is influenced by a combination of environmental factors and the sum of many genetic variants with small effects that combine to explain much variation. A substantial proportion of these genetic effects overlap between psychiatric disorders, but also with positive outcomes, such as IQ and educational attainment.
CONCLUSION: We are experiencing a revolution in genetics, in which the sample size, and thus the predictive value of DNA, is growing faster than our understanding of the complexity of the inherited risk for psychiatric problems.
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几个世纪以来，人们一直怀疑易患精神疾病可能具有遗传性。在20世纪，通过双胞胎和家族研究证实了这一点，创伤后应激障碍和重度抑郁症的遗传度估计约为30%-40%，精神分裂症和自闭症的遗传度约为80%。在21世纪，全基因组关联研究（GWAS）被引入，这是一种能够定位DNA关联的无假设设计。
描述精神病学遗传学研究的发展。
对所选文献进行综述。
规模越来越大的全基因组关联研究表明，精神疾病的风险受环境因素以及众多小效应基因变异总和的共同影响，这些基因变异共同作用可解释很大一部分变异。这些遗传效应的很大一部分在精神疾病之间存在重叠，同时也与一些积极结果重叠，如智商和教育程度。
我们正在经历一场遗传学革命，在这场革命中，样本量以及DNA的预测价值的增长速度超过了我们对精神疾病遗传风险复杂性的理解。
