Genetic overlap between autism, schizophrenia and bipolar disorder.
Genetic overlap between autism, schizophrenia and bipolar disorder.
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DOI：
10.1186/gm102
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发表时间：
2009-10-30
期刊：
影响因子：
12.3
通讯作者：
Owen MJ
中科院分区：
文献类型：
--
作者：
Carroll LS;Owen MJ
有强有力的证据表明，遗传因素对自闭症，精神分裂症和双相情感障碍的病因学有很大的贡献，每种疾病的遗传率估计至少为80%。这些疾病具有复杂的遗传性，多种遗传和环境因素影响疾病风险;然而，在精神病学中，复杂的遗传学因表型复杂性而进一步复杂化。孤独症、精神分裂症和双相情感障碍是有效的症状综合征群，定义了具有广泛相似结局和治疗反应的患者群体。因此，诊断类别很可能是异质的，它们之间的界限有些武断。最近全基因组技术的应用发现了罕见的拷贝数变异和常见的单核苷酸多态性，这些变异与发生这些疾病的风险有关。此外，这些研究表明，遗传基因座之间的重叠，甚至等位基因，倾向于不同的表型。这些发现有几个影响。首先，他们表明拷贝数变异可能是自闭症和精神分裂症的重要危险因素，而常见的单核苷酸多态性等位基因在所有疾病中都有作用。其次，它们意味着有特定的遗传基因座和等位基因，增加了个体患上任何这些疾病的风险。最后，研究结果表明，迄今为止涉及的一些特定遗传位点编码蛋白质，如neurexins和neuroligins，在突触发育和可塑性中发挥作用，因此可能代表这些疾病的共同生物学途径。
There is strong evidence that genetic factors make substantial contributions to the etiology of autism, schizophrenia and bipolar disorders, with heritability estimates being at least 80% for each. These illnesses have complex inheritance, with multiple genetic and environmental factors influencing disease risk; however, in psychiatry, complex genetics is further compounded by phenotypic complexity. Autism, schizophrenia and bipolar disorder are effectively syndromic constellations of symptoms that define groups of patients with broadly similar outcomes and responses to treatment. As such the diagnostic categories are likely to be heterogeneous and the boundaries between them somewhat arbitrary. Recent applications of whole-genome technologies have discovered rare copy number variants and common single-nucleotide polymorphisms that are associated with risk of developing these disorders. Furthermore, these studies have shown an overlap between the genetic loci and even alleles that predispose to the different phenotypes. The findings have several implications. First, they show that copy number variations are likely to be important risk factors for autism and schizophrenia, whereas common single-nucleotide polymorphism alleles have a role in all disorders. Second, they imply that there are specific genetic loci and alleles that increase an individual's risk of developing any of these disorders. Finally, the findings suggest that some of the specific genetic loci implicated so far encode proteins, such as neurexins and neuroligins, that function in synaptic development and plasticity, and therefore may represent a common biological pathway for these disorders.
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影响因子：
30.8
作者：
Helbig I;Mefford HC;Sharp AJ;Guipponi M;Fichera M;Franke A;Muhle H;de Kovel C;Baker C;von Spiczak S;Kron KL;Steinich I;Kleefuss-Lie AA;Leu C;Gaus V;Schmitz B;Klein KM;Reif PS;Rosenow F;Weber Y;Lerche H;Zimprich F;Urak L;Fuchs K;Feucht M;Genton P;Thomas P;Visscher F;de Haan GJ;Møller RS;Hjalgrim H;Luciano D;Wittig M;Nothnagel M;Elger CE;Nürnberg P;Romano C;Malafosse A;Koeleman BP;Lindhout D;Stephani U;Schreiber S;Eichler EE;Sander T
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影响因子：
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作者：
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影响因子：
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通讯作者：
Craddock, Nick