Department of Psychology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
J Abnorm Psychol. 2012 May;121(2):396-406. doi: 10.1037/a0026787. Epub 2012 Jan 30.
Identification of endophenotypes (Gottesman & Gould, 2003; Gottesman & Shields, 1972) that genetically correlate with schizophrenia and are genetically homogeneous is an important strategy for detecting genes that affect schizophrenia risk. Symptoms of schizotypy may familially correlate with schizophrenia; however, there are critical limitations of the current literature concerning this association. The present study examined the genetic architecture and genetic associations between schizotypy and schizophrenia among multigenerational, multiplex schizophrenia families. Genetic schizotypy factor scales were developed that genetically correlated with schizophrenia, although some relations were unexpected in direction suggesting minimization of "psychotic-like" symptoms. These genetic schizotypy factor scales did not genetically correlate with major depressive disorder or substance dependence indicating specificity to schizophrenia. The results highlight the possibility of significant response bias in schizophrenia families, particularly among close relatives, and suggest an important consideration when acquiring self-report information. This is a topic that deserves future study as the origins of this putative bias in relatives are unclear. In addition, the results support the identification of genetic schizotypy factors as a promising technique for maximizing genetic correlation of endophenotypes with schizophrenia.
内表型(Gottesman & Gould, 2003; Gottesman & Shields, 1972)的鉴定,即与精神分裂症具有遗传相关性且遗传上同质的表型,是检测影响精神分裂症风险的基因的重要策略。精神分裂症特质症状可能与精神分裂症存在家族相关性;然而,目前关于这种相关性的文献存在关键的局限性。本研究考察了在多代、多病例精神分裂症家庭中,精神分裂症特质与精神分裂症之间的遗传结构和遗传关联。虽然有些关系的方向出乎意料,但表明“类精神病症状”最小化,因此开发了与精神分裂症具有遗传相关性的遗传精神分裂症特质因子量表。这些遗传精神分裂症特质因子量表与重性抑郁障碍或物质依赖没有遗传相关性,表明与精神分裂症具有特异性。研究结果突出了精神分裂症家庭中存在显著反应偏差的可能性,特别是在近亲中,这在获取自我报告信息时应予以考虑。当涉及到亲属中这种假设偏差的起源不清楚时,这是一个值得进一步研究的话题。此外,该结果支持了将遗传精神分裂症特质因子鉴定为一种有前途的技术,以最大限度地提高与精神分裂症相关的内表型的遗传相关性。