Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.
Mol Psychiatry. 2011 Mar;16(3):286-92. doi: 10.1038/mp.2010.7. Epub 2010 Feb 16.
Susceptibility to schizophrenia and bipolar disorder may involve a substantial, shared contribution from thousands of common genetic variants, each of small effect. Identifying whether risk variants map to specific molecular pathways is potentially biologically informative. We report a molecular pathway analysis using the single-nucleotide polymorphism (SNP) ratio test, which compares the ratio of nominally significant (P<0.05) to nonsignificant SNPs in a given pathway to identify the 'enrichment' for association signals. We applied this approach to the discovery (the International Schizophrenia Consortium (n=6909)) and validation (Genetic Association Information Network (n=2729)) of schizophrenia genome-wide association study (GWAS) data sets. We investigated each of the 212 experimentally validated pathways described in the Kyoto Encyclopaedia of Genes and Genomes in the discovery sample. Nominally significant pathways were tested in the validation sample, and five pathways were found to be significant (P=0.03-0.001); only the cell adhesion molecule (CAM) pathway withstood conservative correction for multiple testing. Interestingly, this pathway was also significantly associated with bipolar disorder (Wellcome Trust Case Control Consortium (n=4847)) (P=0.01). At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. The CAM pathway functions in neuronal cell adhesion, which is critical for synaptic formation and normal cell signaling. Similar pathways have also emerged from a pathway analysis of autism, suggesting that mechanisms involved in neuronal cell adhesion may contribute broadly to neurodevelopmental psychiatric phenotypes.
精神分裂症和双相情感障碍的易感性可能涉及数千个常见遗传变异的大量共同贡献,每个变异的影响都很小。确定风险变异是否映射到特定的分子途径具有潜在的生物学意义。我们报告了一种使用单核苷酸多态性(SNP)比值检验的分子途径分析方法,该方法比较了给定途径中名义上显著(P<0.05)与非显著 SNP 的比值,以确定关联信号的“富集”。我们将这种方法应用于精神分裂症全基因组关联研究(GWAS)数据集的发现(国际精神分裂症联盟(n=6909))和验证(遗传关联信息网络(n=2729))。我们在发现样本中调查了京都基因和基因组百科全书(KEGG)中描述的 212 个经过实验验证的途径中的每一个。在验证样本中测试了名义上显著的途径,发现五个途径具有统计学意义(P=0.03-0.001);只有细胞粘附分子(CAM)途径经受住了多重测试的保守校正。有趣的是,该途径也与双相情感障碍(惠康信托基金会病例对照联盟(n=4847))显著相关(P=0.01)。在基因水平上,三个样本都与 CAM 基因相关(NRXN1 和 CNTNAP2),这些基因以前与特定语言障碍、自闭症和精神分裂症有关。CAM 途径在神经元细胞粘附中起作用,这对突触形成和正常细胞信号传递至关重要。在自闭症的途径分析中也出现了类似的途径,这表明涉及神经元细胞粘附的机制可能广泛参与神经发育性精神表型。
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