Polymorphisms in the promoter and coding regions of the synapsin III gene - A lack of association with schizophrenia
Polymorphisms in the promoter and coding regions of the synapsin III gene - A lack of association with schizophrenia
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DOI：
10.1159/000054896
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发表时间：
2001-01-01
影响因子：
3.2
通讯作者：
Suzuki, T
中科院分区：
文献类型：
--
作者：
Imai, K;Harada, S;Suzuki, T
位于染色体22 q12 -13上的人类突触蛋白III基因先前已被报道指示精神分裂症的易感性。除启动子区-196 G/A多态性外，还发现了新的罕见变异（第3外显子Thr 136 Thr，第12外显子Pro468 Ser，Glu 525 Gln和Pro534 Leu，第13外显子非翻译区1769 G/C）。在87例无关精神分裂症患者和100例健康对照者中，-196 G/A多态性的基因型或等位基因频率无显著差异，即使患者被诊断细分为亚型和病程说明。此外，在内含子1中的GATG重复的等位基因频率在患者和对照组之间没有显着差异。这些结果表明，突触蛋白III基因多态性与精神分裂症无关。版权所有（C）2001 S. Karger AG，巴塞尔。
The human synapsin III gene, located on chromosome 22q12-13, has previously been reported to indicate a susceptibility for schizophrenia. Noval rare variants (Thr136Thr in exon 3, Pro468Ser, Glu525Gln and Pro534Leu in exon '12, and 1769 G/C in the untranslated reg ion of exon 13) were found in addition to the polymorphic variant (-196 G/A in the promoter region). No significant differences in genotypic or allelic frequencies of the -196 G/A polymorphism were found between 87 unrelated schizophrenic patients and 100 healthy controls, even when the patients were diagnostically subdivided into subtypes and course specifiers. Furthermore, allelic frequencies of the GATG repeat in intron 1 were not significantly different between the patients and the controls. These results suggest that synapsin III gene polymorphisms are not associated with schizophrenia. Copyright (C) 2001 S. Karger AG, Basel.