Hatzimanolis Alex, Smyrnis Nikolaos, Avramopoulos Dimitrios, Stefanis Costas N, Evdokimidis Ioannis, Stefanis Nicholas C
University Mental Health Research Institute, National and Kapodistrian University of Athens, Athens, Greece.
Psychiatr Genet. 2012 Aug;22(4):210-3. doi: 10.1097/YPG.0b013e328353ae79.
Independent genome-wide association studies have implicated a common single nucleotide polymorphism within the ANK3 gene (rs10994336) in bipolar disorder (BD) susceptibility, thus establishing rs10994336 marker as a strong candidate predisposing genetic factor for BD. Furthermore, recent findings demonstrate that this variant impacts on cognitive functioning in BD patients, their unaffected relatives, and healthy controls by influencing sustained attention. Here, we aimed to replicate this finding in a large population-based sample of healthy young adults (n=1808). Sustained attention was evaluated using the Continuous Performance Test as in the original study and working memory was assessed with the n-back task. Individuals carrying the BD risk T-allele showed significantly reduced sensitivity in target detection, increased errors of commission, and atypical response latency variability. In addition, we confirmed the lack of an association between the rs10994336 variant and working memory, as well as general intellectual ability, suggesting a specific effect on the Continuous Performance Test performance.
独立的全基因组关联研究表明，ANK3基因内的一个常见单核苷酸多态性（rs10994336）与双相情感障碍（BD）易感性有关，从而将rs10994336标记确定为BD的一个强有力的候选易感遗传因素。此外，最近的研究结果表明，该变体通过影响持续注意力，对BD患者、其未受影响的亲属和健康对照者的认知功能产生影响。在此，我们旨在在一个基于大样本人群的健康年轻成年人样本（n = 1808）中重复这一发现。如在原始研究中一样，使用连续性能测试评估持续注意力，并使用n-back任务评估工作记忆。携带BD风险T等位基因的个体在目标检测中的敏感性显著降低，错误率增加，并且反应潜伏期变异性异常。此外，我们证实rs10994336变体与工作记忆以及一般智力能力之间缺乏关联，表明对连续性能测试表现有特定影响。
