Bakker Steven C, Kahn René S, Ophoff Roel A
Universitair Medisch Centrum Utrecht, Afdeling Psychiatrie, Rudolf Magnus Instituut, Utrecht, the Netherlands.
Ned Tijdschr Geneeskd. 2010;154:A1909.
Schizophrenia is a complex genetic disorder which is caused by multiple heritable and environmental factors. Large-scale screening of the entire DNA has recently resulted in the identification of several DNA variants associated with schizophrenia. The variants identified are single nucleotide polymorphisms (SNPs) with a high frequency in the population and a small effect, and rare copy number variants (CNVs) with larger effects. Variants are not unique to patients, and appear to be involved in multiple psychiatric disorders. The underlying biological mechanisms are not evident. Together, the identified variants only explain a fraction of all cases of the disease. Genetic testing of family members of patients may become feasible in the near future. For other clinical applications additional variants need to be identified first.
精神分裂症是一种复杂的基因疾病,由多种遗传和环境因素引起。最近对整个DNA进行的大规模筛查已鉴定出几种与精神分裂症相关的DNA变异。所鉴定出的变异包括在人群中高频出现且效应较小的单核苷酸多态性(SNP),以及效应较大的罕见拷贝数变异(CNV)。这些变异并非患者所特有,似乎还涉及多种精神疾病。其潜在的生物学机制尚不明确。总体而言,所鉴定出的变异仅解释了该疾病所有病例中的一部分。在不久的将来,对患者家庭成员进行基因检测可能会变得可行。对于其他临床应用,首先需要鉴定出更多的变异。