《美国人类遗传学杂志》（American Journal of Human Genetics）最近刊登了美国加州大学洛杉矶分校的一项最新研究。研究发现了可能会导致患有精神分裂症的3个新候选基因。研究人员认为，对这些候选基因的确定将为研究和治疗精神分裂症提供重要的参考。
精神分裂症是一种以感知、思维、情感、行为等多方面的障碍，以及精神活动与环境不协调为特征的最常见精神病。精神分裂症是一种多基因遗传病，它给社会和家庭造成了巨大的负担。研究人员研究了基因组中具有缺失和重复的病人，也就是拷贝数变异(CNVs)现象。结果发现，有3种基因的拷贝数突变会与脑部功能有关，从而会增加患有精神分裂症的几率。研究人员对750多名精神分裂症患者进行了研究，发现有1％患者中的这三个基因缺失。尽管人群中基因拷贝数变异的几率只有1%，但是这些拷贝数和其他染色体位点上拷贝数的变异可能与人类脑部发育息息相关。
研究人员表示，这3个基因变异可能会增加患精神分裂症的风险，导致普通人患精神分裂症的几率增高。对这3个候选基因的确定将为研究和治理精神分裂症提供重要的参考。（生物谷Bioon.com）
生物谷推荐原始出处：
American Journal of Human Genetics，doi:10.1016/j.ajhg.2008.09.011，Terry Vrijenhoek, Roel A. Ophoff, Joris A. Veltman
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Terry Vrijenhoek1, 6, Jacobine E. Buizer-Voskamp2, 3, 6, Inge van der Stelt1, Eric Strengman3, Genetic Risk and Outcome in Psychosis (GROUP) Consortium7, Chiara Sabatti4, Ad Geurts van Kessel1, Han G. Brunner1, Roel A. Ophoff2, 3, 5, , and Joris A. Veltman1
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands 2Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Centre 3584 CX Utrecht, Utrecht, The Netherlands 3Complex Genetics Section, Division of Biomedical Genetics, Department of Medical Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands 4Departments of Human Genetics and Statistics, University of California Los Angeles, Los Angeles, CA 90095, USA 5Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA
Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately 1% of the general population. Most genetics studies so far have focused on disease association with common genetic variation, such as single-nucleotide polymorphisms (SNPs), but it has recently become apparent that large-scale genomic copy-number variants (CNVs) are involved in disease development as well. To assess the role of rare CNVs in schizophrenia, we screened 54 patients with deficit schizophrenia using Affymetrix's GeneChip 250K SNP arrays. We identified 90 CNVs in total, 77 of which have been reported previously in unaffected control cohorts. Among the genes disrupted by the remaining rare CNVs are MYT1L, CTNND2, NRXN1, and ASTN2, genes that play an important role in neuronal functioning but—except for NRXN1—have not been associated with schizophrenia before. We studied the occurrence of CNVs at these four loci in an additional cohort of 752 patients and 706 normal controls from The Netherlands. We identified eight additional CNVs, of which the four that affect coding sequences were found only in the patient cohort. Our study supports a role for rare CNVs in schizophrenia susceptibility and identifies at least three candidate genes for this complex disorder.
