Central Institute of Mental Health, University of Heidelberg, Medical Faculty Mannheim, Mannheim, Germany.
Expert Rev Neurother. 2011 Jul;11(7):937-41. doi: 10.1586/ern.11.84.
Research has shown that structural variation in the human genome, including rare copy number variations (CNVs), contributes to genetic susceptibility to psychiatric diseases, such as schizophrenia, a devastating complex disorder with a high genetic load. The study by Vacic et al. applied a genome-wide approach to detect novel, rare and highly penetrant CNVs. Detailed analysis of microduplications at 7q36.3 revealed that the neuropeptide receptor gene VIPR2 confers a significant risk for schizophrenia. This suggests that altered vasoactive intestinal signaling contributes to the genetic etiology of this disorder. This article recapitulates the findings of this study within the context of current knowledge of CNVs in the field of psychiatric disease.
研究表明,人类基因组中的结构变异,包括罕见的拷贝数变异(CNVs),会导致精神疾病(如精神分裂症)的遗传易感性,精神分裂症是一种具有高遗传负荷的破坏性复杂疾病。Vacic 等人的研究应用了全基因组方法来检测新型、罕见和高外显率的 CNVs。对 7q36.3 处的微重复的详细分析表明,神经肽受体基因 VIPR2 使精神分裂症的风险显著增加。这表明,血管活性肠信号的改变导致了这种疾病的遗传病因。本文在精神疾病领域 CNVs 的现有知识背景下,概括了这项研究的结果。