Replication of 1q42 linkage in Finnish schizophrenia pedigrees
Replication of 1q42 linkage in Finnish schizophrenia pedigrees
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DOI：
10.1038/sj.mp.4001536
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发表时间：
2004-11-01
影响因子：
11
通讯作者：
Peltonen, L
中科院分区：
文献类型：
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作者：
Ekelund, J;Hennah, W;Peltonen, L
在几项独立的研究中，染色体1q与精神分裂症的病因有关。然而，峰值连锁发现分散在一个大的染色体区域，在该区域也有阴性发现的报道。我们的小组以前观察到染色体1q42上的连锁，最大化在DISC1基因内，这也暗示了精神分裂症的病因学基于功能研究。在这里介绍的研究中，我们使用70个家庭的研究样本，其中有多个个体患有精神分裂症或相关疾病，独立于我们以前的报告中的研究样本，对1号染色体上的300个多态性标记进行基因分型。我们再次发现了DISC1基因内1q42最大化连锁的证据（rs1000731，lod = 2.70）。此外，含有最强连锁标记的单倍型显示出与疾病相关的一些证据。这重复了以前在同一地区的连锁发现，并构成了该地区易感基因的支持性证据。
Chromosome 1q has been implicated in the etiology of schizophrenia in several independent studies. However, the peak linkage findings have been dispersed over a large chromosomal region, with negative findings in this region also being reported. Our group has previously observed linkage on chromosome 1q42, maximizing within the DISC1 gene, which has also been implied in the etiology of schizophrenia based on functional studies. In the study presented here, we genotyped 300 polymorphic markers on chromosome 1 using a study sample of 70 families with multiple individuals affected with schizophrenia or related conditions, independent of the study samples in our previous reports. We again found evidence for linkage on 1q42 maximizing within the DISC1 gene (rs1000731, lod = 2.70). Further, a haplotype containing the most strongly linked markers showed some evidence of association with the disease. This replicates the previous linkage finding in the same region and constitutes supportive evidence for a susceptibility gene in this region.