Kotyuk Eszter, Sasvári-Szekely Mária, Székely Anna
Eötvös Loránd Tudományegyetem, Pszichológiai Intézet, Budapest, Hungary.
Neuropsychopharmacol Hung. 2014 Jun;16(2):85-90.
Psychiatric genetics aims to map genetic factors of psychiatric disorders with complex inheritance. The most commonly used phenotype is the categorical variable of the presence or absence of a disease (case-control model). However, the biological background of various psychiatric disease categories often overlaps. Thus, the use of endophenotypes based on specific biological mechanisms seems to be a more efficient approach in genetic association studies. Results confirm that categorical variables as phenotypes are statistically not so sensitive in identification of a genetic association as well-chosen endophenotypes. Current literature advocates a growing significance of analyzing dimensional neurocognitive endophenotypes in genetic association studies, as well as in developing diagnostic category systems with biological backgrounds.
精神遗传学旨在绘制具有复杂遗传特征的精神障碍的遗传因素图谱。最常用的表型是疾病存在或不存在的分类变量(病例对照模型)。然而,各种精神疾病类别的生物学背景往往相互重叠。因此,基于特定生物学机制使用内表型在基因关联研究中似乎是一种更有效的方法。结果证实,作为表型的分类变量在识别基因关联方面在统计学上不如精心选择的内表型敏感。当前文献主张在基因关联研究以及开发具有生物学背景的诊断分类系统中,分析维度神经认知内表型的重要性日益增加。