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首页> 外文期刊>Journal of psychiatry & neuroscience: JPN >Protocadherin α (PCDHA) as a novel susceptibility gene for autism
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Protocadherin α (PCDHA) as a novel susceptibility gene for autism

机译：原钙粘蛋白α（PCDHA）作为自闭症的新型易感基因

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Background: Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin a gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods: We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results: Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex families, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview-Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations: Our results should be replicated in an independent population and/or in samples of different racial backgrounds. Conclusion: Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism.
机译：背景：突触功能障碍已被证明与自闭症的发病机制有关。我们假设原钙粘蛋白基因簇（PCDHA）参与突触特异性和脑的血清素能神经支配，可能是自闭症的合适候选基因。方法：我们从自闭症遗传资源交易所获得的3211个人（841个家庭，包括574个多重家庭）的DNA样本中检查了14种PCDHA单核苷酸多态性（SNP）与自闭症的遗传相关性。结果：五个SNP（rs251379，rs1119032，rs17119271，rs155806和rs17119346）显示出与自闭症的显着关联。在多重家族中，rs1119032（风险等位基因的z得分G = 3.415）观察到最强的关联（p <0.001）; SNP关联可承受多重族的多次测试校正（p = 0.041）。涉及rs1119032的单倍型表现出与自闭症的强烈关联，可以经受多次测试校正。在多重家族的定量传递不平衡测试中，rs1119032的G等位基因与自闭症诊断访谈修订版（ADI-R）_D（早期发育异常）得分显着相关（p = 0.033）。我们还发现rs17119346的A / A，A / G和G / G基因型之间的ADI-R_A（社交互动）得分分布存在显着差异（p = 0.002）。局限性：我们的结果应在独立的人群和/或不同种族背景的样本中复制。结论：我们的研究为PCDHA作为自闭症的潜在候选基因提供了强有力的遗传证据。

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