Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya, Josep Trueta s/n, Sant Cugat del Vallès-08195, Spain.
BMC Psychiatry. 2011 Jun 24;11:103. doi: 10.1186/1471-244X-11-103.
Genome wide association studies reported two single nucleotide polymorphisms in ANK3 (rs9804190 and rs10994336) as independent genetic risk factors for bipolar disorder. Another SNP in ANK3 (rs10761482) was associated with schizophrenia in a large European sample. Within the debate on common susceptibility genes for schizophrenia and bipolar disorder, we tried to investigate common findings by analyzing association of ANK3 with schizophrenia, bipolar disorder and unipolar depression.
We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs10761482) in a case-control sample of German descent including 920 patients with schizophrenia, 400 with bipolar affective disorder, 220 patients with unipolar depression according to ICD 10 and 480 healthy controls. Sample was further differentiated according to Leonhard's classification featuring disease entities with specific combination of bipolar and psychotic syndromes.
We found no association of rs9804190 and rs10994336 with bipolar disorder, unipolar depression or schizophrenia. In contrast to previous findings rs10761482 was associated with bipolar disorder (p = 0.015) but not with schizophrenia or unipolar depression. We observed no association with disease entities according to Leonhard's classification.
Our results support a specific genetic contribution of ANK3 to bipolar disorder though we failed to replicate findings for schizophrenia. We cannot confirm ANK3 as a common risk factor for different diseases.
全基因组关联研究报道 ANK3 中的两个单核苷酸多态性（rs9804190 和 rs10994336）是双相情感障碍的独立遗传风险因素。ANK3 中的另一个 SNP（rs10761482）在一个大型欧洲样本中与精神分裂症相关。在关于精神分裂症和双相情感障碍常见易感基因的争论中，我们试图通过分析 ANK3 与精神分裂症、双相情感障碍和单相抑郁的关联来探讨共同的发现。
我们对 ANK3 中的三个单核苷酸多态性（SNP）（rs9804190、rs10994336 和 rs10761482）进行了基因分型，该样本包括来自德国血统的病例对照样本，包括 920 名精神分裂症患者、400 名双相情感障碍患者、220 名符合 ICD-10 的单相抑郁患者和 480 名健康对照者。根据 Leonhard 分类，样本进一步分为具有特定双相和精神病综合征组合的疾病实体。
我们没有发现 rs9804190 和 rs10994336 与双相情感障碍、单相抑郁或精神分裂症有关。与先前的发现相反，rs10761482 与双相情感障碍相关（p=0.015），但与精神分裂症或单相抑郁无关。我们没有观察到根据 Leonhard 分类的疾病实体的关联。
我们的结果支持 ANK3 对双相情感障碍有特定的遗传贡献，尽管我们未能复制精神分裂症的发现。我们不能确认 ANK3 是不同疾病的共同危险因素。
