PIK4CA精神分裂症易感基因与成人22q11.2缺失综合征的关联。
Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome.
作者信息
Vorstman Jacob A S, Chow Eva W, Ophoff Roel A, van Engeland Herman, Beemer Frits A, Kahn René S, Sinke Richard J, Bassett Anne S
机构信息
Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands.
出版信息
Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):430-3. doi: 10.1002/ajmg.b.30827.
The 22q11.2 deletion syndrome (22q11DS) is associated with an increased prevalence (20-30%) of schizophrenia. Therefore, it is likely that one or more genes within the 22q11.2 region are causally related to schizophrenia. Recently, a significant association with schizophrenia in the general population was reported for three SNPs in phosphatidyl-inositol-4-kinase-catalytic-alpha (PIK4CA), a gene located in the 22q11.2 region. In the current study, we tested the hypothesis that the same PIK4CA risk-alleles would be associated with schizophrenia in individuals with 22q11DS. Our analysis of the PIK4CA genotypes in a sample of 79 adults with typical 22q11.2 deletions, comparing those with schizophrenia to those without, revealed a significant association. Our findings represent an independent replication of the previously reported PIK4CA association with schizophrenia in the general population. Second, the results of this study indicate that variation at PIK4CA may be a relevant factor influencing the risk of schizophrenia in individuals with 22q11DS.
22q11.2缺失综合征（22q11DS）与精神分裂症患病率升高（20 - 30%）相关。因此，22q11.2区域内的一个或多个基因可能与精神分裂症存在因果关系。最近，有报道称位于22q11.2区域的磷脂酰肌醇-4-激酶催化α亚基（PIK4CA）基因中的三个单核苷酸多态性（SNP）与普通人群的精神分裂症存在显著关联。在本研究中，我们检验了这样一个假设：相同的PIK4CA风险等位基因与22q11DS个体的精神分裂症相关。我们对79名具有典型22q11.2缺失的成年样本的PIK4CA基因型进行分析，比较了患有精神分裂症的个体和未患精神分裂症的个体，结果发现了显著关联。我们的研究结果独立重复了先前报道的PIK4CA与普通人群精神分裂症的关联。其次，本研究结果表明PIK4CA基因变异可能是影响22q11DS个体精神分裂症风险的一个相关因素。
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