Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis
Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis
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DOI：
10.1038/sj.mp.4001418
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发表时间：
2004-02-01
影响因子：
11
通讯作者：
Pato, CN
中科院分区：
文献类型：
--
作者：
Sklar, P;Pato, MT;Pato, CN
精神分裂症是一种常见的精神疾病，具有复杂的遗传病因。为了了解这种综合征在葡萄牙群岛人群中的遗传基础，我们对29个精神分裂症家系进行了全基因组扫描，发现5q31-5q35上有一个与强连锁的单一区域(Npl=3.09P=0.0012，D5S820)。经验模拟将显著连锁的全基因组阈值设置为NPL=3.10。精神分裂症中这个基因座的额外支持来自于更高密度的映射和对另外11个家庭的映射。在40个家系中，在D5S2112、D5S820标记上的NPL值最高为3.28(P=0.00066)。这些数据和之前来自其他研究人员的连锁发现为该基因组区域作为精神分裂症的易感基因提供了强有力和一致的证据。对精神分裂症和双相情感障碍家族中一种新的表型精神病的探索性分析发现，有证据表明该基因与精神分裂症中发现的相同标记相关联(在D5S820，NPL峰值=3.03P=0.0012)，表明该基因座可能与这两种疾病中观察到的精神症状有关。
Schizophrenia is a common psychiatric disorder with a complex genetic etiology. To understand the genetic basis of this syndrome in Portuguese Island populations, we performed a genome-wide scan of 29 families with schizophrenia, which identified a single region on 5q31 - 5q35 with strong linkage (NPL = 3.09, P = 0.0012 at D5S820). Empirical simulations set a genome-wide threshold of NPL = 3.10 for significant linkage. Additional support for this locus in schizophrenia comes from higher-density mapping and mapping of 11 additional families. The combined set of 40 families had a peak NPL = 3.28 ( P = 0.00066) at markers D5S2112 D5S820. These data and previous linkage findings from other investigators provide strong and consistent evidence for this genomic region as a susceptibility locus for schizophrenia. Exploratory analyses of a novel phenotype, psychosis, in families with schizophrenia and bipolar disorder detected evidence for linkage to the same markers as found in schizophrenia ( peak NPL = 3.03, P = 0.0012 at D5S820), suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases.