Klei Lambertus, Bacanu Silviu-Alin, Myles-Worsley Marina, Galke Brandi, Xie Weiting, Tiobech Josepha, Otto Caleb, Roeder Kathyrn, Devlin Bernie, Byerley William
Department of Statistics, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
Hum Genet. 2005 Aug;117(4):349-56. doi: 10.1007/s00439-005-1320-1. Epub 2005 May 25.
We report on linkage analysis of a completely ascertained population of familial psychosis derived from the oceanic nation of Palau. Palau, an archipelago of islands in the Southern Pacific, currently has a population of approximately 23,000 individuals. The peoples of Palau populated these islands recently in human history, approximately 2,000 years ago. As both historical and genetic evidence suggest, the population is far more homogeneous than most other populations undergoing genetic studies, and should therefore prove quite useful for mapping genetic variants having a meaningful impact on susceptibility to psychotic disorders. Moreover, for our study, essentially all on-island schizophrenics (150) and individuals with other psychotic disorders (25) participated. By analysis of narrow (only schizophrenia) and broad (all psychosis) diagnostic schemes, two-point linkage analyses suggest that two regions of the genome harbor genetic variants affecting liability in most families, 3q28 (LOD = 3.03) and 17q32.2 (LOD = 2.80). Results from individual pedigrees also support 2q37.2, 2p14, and 17p13 as potentially harboring important genetic variants. Most of these regions have been implicated in other genetic studies of psychosis in populations physically quite distant from this Oceanic population, although some (e.g., 3q28) appear to be novel results for schizophrenia linkage analyses.
我们报告了对来自太平洋岛国帕劳的一个完全确定的家族性精神病群体进行的连锁分析。帕劳是南太平洋的一个群岛国家，目前人口约为23000人。帕劳的居民在人类历史上相对较晚才定居在这些岛屿上，大约在2000年前。正如历史和遗传证据所表明的，该群体比大多数其他接受基因研究的群体更加同质化，因此对于绘制对精神病易感性有重要影响的基因变异图谱应该非常有用。此外，在我们的研究中，基本上所有岛上的精神分裂症患者（150人）和患有其他精神障碍的个体（25人）都参与了。通过对狭义（仅精神分裂症）和广义（所有精神病）诊断方案的分析，两点连锁分析表明，基因组的两个区域含有影响大多数家族易感性的基因变异，分别是3q28（LOD = 3.03）和17q32.2（LOD = 2.80）。各个家系的结果也支持2q37.2、2p14和17p13可能含有重要的基因变异。这些区域中的大多数在与这个大洋洲群体地理上相距甚远的其他精神病基因研究中也有涉及，不过有些区域（如3q28）对于精神分裂症连锁分析来说似乎是新的结果。
