与精神分裂症谱系障碍和智商相关的遗传变异重叠：系统综述。
Overlap between genetic variants associated with schizophrenia spectrum disorders and intelligence quotient: a systematic review.
机构信息
From the Research Unit in Mental Illness, Valdecilla Biomedical Research Institute, Santander, Cantabria, Spain (Murillo-García, Barrio-Martínez, Ayesa-Arriola); the Department of Molecular Biology, Faculty of Medicine, University of Cantabria, Santander, Cantabria, Spain (Murillo-García, Ayesa-Arriola); the Faculty of Psychology, University Complutense of Madrid, Madrid, Spain (Barrio-Martínez); the Department of Psychology, Faculty of Health Sciences, University of Deusto, Bilbao, Basque Country, Spain (Setién-Suero); the Biomedical Research Networking Center for Mental Health (CIBERSAM), Madrid, Madrid, Spain (Soler, Papiol, Fatjó-Vilas, Ayesa-Arriola); the Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain (Soler, Fatjó-Vilas); the Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona, Barcelona, Spain (Soler); the Institute of Psychiatric Phenomics and Genomics, University Hospital, LMU Munich, Munich, Germany (Papiol); the Department of Psychiatry and Psychotherapy, University Hospital, LMU Munich, Munich, Germany (Papiol); the FIDMAG Sisters Hospitallers Research Foundation, Sant Boi de Llobregat, Barcelona, Spain (Fatjó-Vilas).
From the Research Unit in Mental Illness, Valdecilla Biomedical Research Institute, Santander, Cantabria, Spain (Murillo-García, Barrio-Martínez, Ayesa-Arriola); the Department of Molecular Biology, Faculty of Medicine, University of Cantabria, Santander, Cantabria, Spain (Murillo-García, Ayesa-Arriola); the Faculty of Psychology, University Complutense of Madrid, Madrid, Spain (Barrio-Martínez); the Department of Psychology, Faculty of Health Sciences, University of Deusto, Bilbao, Basque Country, Spain (Setién-Suero); the Biomedical Research Networking Center for Mental Health (CIBERSAM), Madrid, Madrid, Spain (Soler, Papiol, Fatjó-Vilas, Ayesa-Arriola); the Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain (Soler, Fatjó-Vilas); the Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona, Barcelona, Spain (Soler); the Institute of Psychiatric Phenomics and Genomics, University Hospital, LMU Munich, Munich, Germany (Papiol); the Department of Psychiatry and Psychotherapy, University Hospital, LMU Munich, Munich, Germany (Papiol); the FIDMAG Sisters Hospitallers Research Foundation, Sant Boi de Llobregat, Barcelona, Spain (Fatjó-Vilas)
出版信息
J Psychiatry Neurosci. 2022 Nov 22;47(6):E393-E408. doi: 10.1503/jpn.220026. Print 2022 Nov-Dec.
BACKGROUND
To study whether there is genetic overlap underlying the risk for schizophrenia spectrum disorders (SSDs) and low intelligence quotient (IQ), we reviewed and summarized the evidence on genetic variants associated with both traits.
METHODS
We performed this review in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and preregistered it in PROSPERO. We searched the Medline databases via PubMed, PsycInfo, Web of Science and Scopus. We included studies in adults with a diagnosis of SSD that explored genetic variants (single nucleotide polymorphisms [SNPs], copy number variants [CNVs], genomic insertions or genomic deletions), estimated IQ and studied the relationship between genetic variability and both traits (SSD and IQ). We synthesized the results and assessed risk of bias using the Quality of Genetic Association Studies (Q-Genie) tool.
RESULTS
Fifty-five studies met the inclusion criteria (45 case-control, 9 cross-sectional, 1 cohort), of which 55% reported significant associations for genetic variants involved in IQ and SSD. The SNPs more frequently explored through candidate gene studies were in , , and . Through genome-wide association studies, 2 SNPs in and were associated with IQ in patients with SSD. The studies on CNVs suggested significant associations between structural variants and low IQ in patients with SSD.
LIMITATIONS
Overall, primary studies used heterogeneous IQ measurement tools and had small samples. Grey literature was not screened.
CONCLUSION
Genetic overlap between SSD and IQ supports the neurodevelopmental hypothesis of schizophrenia. Most of the risk polymorphisms identified were in genes relevant to brain development, neural proliferation and differentiation, and synaptic plasticity.
背景
为了研究精神分裂症谱系障碍（SSDs）和低智商（IQ）的风险是否存在遗传重叠，我们回顾和总结了与这两个特征相关的遗传变异的证据。
方法
我们按照系统评价和荟萃分析的首选报告项目（PRISMA）进行了这项综述，并在 PROSPERO 中进行了预注册。我们通过 PubMed、PsycInfo、Web of Science 和 Scopus 搜索了 Medline 数据库。我们纳入了成年 SSD 患者的研究，这些研究探讨了遗传变异（单核苷酸多态性[SNP]、拷贝数变异[CNV]、基因组插入或基因组缺失）、估计 IQ 并研究了遗传变异性与这两个特征（SSD 和 IQ）之间的关系。我们综合了结果，并使用遗传关联研究质量（Q-Genie）工具评估了偏倚风险。
结果
符合纳入标准的研究有 55 项（45 项病例对照、9 项横断面研究、1 项队列研究），其中 55%的研究报告了与 IQ 和 SSD 相关的遗传变异的显著关联。通过候选基因研究更频繁探索的 SNP 位于、、和。通过全基因组关联研究，2 个位于和的 SNP 与 SSD 患者的 IQ 相关。CNV 研究表明结构变异与 SSD 患者低 IQ 之间存在显著关联。
局限性
总体而言，主要研究使用了不同的 IQ 测量工具，样本量较小。未筛选灰色文献。
结论
SSD 和 IQ 之间的遗传重叠支持精神分裂症的神经发育假说。大多数确定的风险多态性位于与大脑发育、神经增殖和分化以及突触可塑性相关的基因中。
Zotero 插件