Objective:

The prevalence and significance of schizophrenia-related phenotypes at the population level is debated in the literature. Here, the authors assessed whether two recently reported neuroanatomical signatures of schizophrenia—signature 1, with widespread reduction of gray matter volume, and signature 2, with increased striatal volume—could be replicated in an independent schizophrenia sample, and investigated whether expression of these signatures can be detected at the population level and how they relate to cognition, psychosis spectrum symptoms, and schizophrenia genetic risk.

Methods:

This cross-sectional study used an independent schizophrenia-control sample (N=347; ages 16–57 years) for replication of imaging signatures, and then examined two independent population-level data sets: typically developing youths and youths with psychosis spectrum symptoms in the Philadelphia Neurodevelopmental Cohort (N=359; ages 16–23 years) and adults in the UK Biobank study (N=836; ages 44–50 years). The authors quantified signature expression using support-vector machine learning and compared cognition, psychopathology, and polygenic risk between signatures.

Results:

Two neuroanatomical signatures of schizophrenia were replicated. Signature 1 but not signature 2 was significantly more common in youths with psychosis spectrum symptoms than in typically developing youths, whereas signature 2 frequency was similar in the two groups. In both youths and adults, signature 1 was associated with worse cognitive performance than signature 2. Compared with adults with neither signature, adults expressing signature 1 had elevated schizophrenia polygenic risk scores, but this was not seen for signature 2.

Conclusions:

The authors successfully replicated two neuroanatomical signatures of schizophrenia and describe their prevalence in population-based samples of youths and adults. They further demonstrated distinct relationships of these signatures with psychosis symptoms, cognition, and genetic risk, potentially reflecting underlying neurobiological vulnerability.

中文翻译：

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精神分裂症影像特征及其与普通人群认知、精神病理学和遗传学的关联

客观的：

文献中对精神分裂症相关表型在人群水平的流行率和重要性进行了辩论。在这里，作者评估了两个最近报道的精神分裂症的神经解剖学特征——特征 1，灰质体积普遍减少，特征 2，纹状体体积增加——是否可以在独立的精神分裂症样本中复制，并研究了这些特征的表达是否可以在人群水平上检测到它们与认知、精神病谱系症状和精神分裂症遗传风险的关系。

方法：

这项横断面研究使用一个独立的精神分裂症对照样本（N=347；年龄 16-57 岁）来复制成像特征，然后检查两个独立的人口水平数据集：典型的发育中的青少年和患有精神病谱系症状的青少年费城神经发育队列（N=359；年龄 16-23 岁）和英国生物库研究中的成年人（N=836；年龄 44-50 岁）。作者使用支持向量机器学习量化了签名表达，并比较了签名之间的认知、精神病理学和多基因风险。

结果：

复制了精神分裂症的两个神经解剖学特征。签名 1 而不是签名 2 在患有精神病谱系症状的青少年中比在正常发育的青少年中更常见，而签名 2 的频率在两组中相似。在青少年和成人中，特征 1 的认知表现都比特征 2 差。与没有特征的成年人相比，表达特征 1 的成年人的精神分裂症多基因风险评分升高，但特征 2 没有出现这种情况。

结论：

作者成功地复制了精神分裂症的两种神经解剖学特征，并描述了它们在基于人群的青年和成人样本中的流行程度。他们进一步证明了这些特征与精神病症状、认知和遗传风险之间的明显关系，可能反映出潜在的神经生物学脆弱性。