Maier W, Zobel A, Rietschel M
Department of Psychiatry, University of Bonn, Bonn, Germany.
Pharmacopsychiatry. 2003 Nov;36 Suppl 3:S195-202. doi: 10.1055/s-2003-45130.
The molecular-genetic basis of non-mendelian, genetically influenced disorders (complex disorders) is beginning to be uncovered. Recently, major progress in localization and detection of disposition genes of schizophrenia and bipolar disorder was achieved. We provide a comprehensive overview of recent results of linkage and association studies in schizophrenia and bipolar disorder. Several disposition genes for schizophrenia (DTNBP1, NRG1, G72) were identified, whereas evidence for specific disposition genes in bipolar disorder is more limited. Multiple limitations of current research strategies in the search of disposition genes of complex disorders have to be considered; alternative phenotype definitions, genome-wide association studies and parallel investigation of epigenetic misregulations might overcome these limitations.
非孟德尔式、受遗传影响的疾病(复杂疾病)的分子遗传学基础正开始被揭示。最近,在精神分裂症和双相情感障碍的易患基因定位与检测方面取得了重大进展。我们全面概述了精神分裂症和双相情感障碍连锁与关联研究的最新成果。已确定了几个精神分裂症的易患基因(DTNBP1、NRG1、G72),而双相情感障碍中特定易患基因的证据则较为有限。在寻找复杂疾病易患基因的过程中,必须考虑当前研究策略的多重局限性;替代性的表型定义、全基因组关联研究以及对表观遗传失调的平行研究可能会克服这些局限性。