Association study of polymorphisms in synaptic vesicle-associated genes, SYN2 and CPLX2, with schizophrenia.
Association study of polymorphisms in synaptic vesicle-associated genes, SYN2 and CPLX2, with schizophrenia.
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DOI：
10.1186/1744-9081-1-15
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发表时间：
2005-08-31
期刊：
影响因子：
--
通讯作者：
Fukumaki Y
中科院分区：
文献类型：
--
作者：
Lee HJ;Song JY;Kim JW;Jin SY;Hong MS;Park JK;Chung JH;Shibata H;Fukumaki Y
神经元回路中异常功能连接的发生是精神分裂症病因学的综合理论之一。以往的研究报道，突触蛋白2（SYN 2）和复合蛋白2（CPLX 2）基因的蛋白和mRNA水平在精神分裂症患者中降低。突触蛋白2和复合蛋白2参与突触发生和神经递质释放的调节。本报告介绍了一项研究的关联SYN 2和CPLX 2的多态性与精神分裂症在韩国人口。使用直接测序或限制性片段长度多态性分析，对154例韩国精神分裂症患者和133例对照患者的SYN 2中的6个单核苷酸多态性（SNPs）和1个5-bp插入/缺失以及CPLX 2中的5个SNPs进行基因分型。构建了每个基因的标记间连锁不平衡图。虽然SYN 2和CPLX 2多态性的基因型分布和等位基因频率在精神分裂症组和对照组之间没有显著差异，但双向单倍型分析显示与疾病有显著关联（经Bonferroni校正后P < 0.05）。三向单倍型分析还揭示了SYN 2与精神分裂症的显著关联（经Bonferroni校正后P < 0.001）。这些结果表明，SYN 2和CPLX 2可能赋予精神分裂症的易感性在韩国人口。
The occurrence of aberrant functional connectivity in the neuronal circuit is one of the integrative theories of the etiology of schizophrenia. Previous studies have reported that the protein and mRNA levels of the synapsin 2 (SYN2) and complexin 2 (CPLX2) genes were decreased in patients with schizophrenia. Synapsin 2 and complexin 2 are involved in synaptogenesis and the modulation of neurotransmitter release. This report presents a study of the association of polymorphisms of SYN2 and CPLX2 with schizophrenia in the Korean population. Six single nucleotide polymorphisms (SNPs) and one 5-bp insertion/deletion in SYN2 and five SNPs in CPLX2 were genotyped in 154 Korean patients with schizophrenia and 133 control patients using direct sequencing or restriction fragment length polymorphism analysis. An intermarker linkage disequilibrium map was constructed for each gene. Although there was no significant difference in the genotypic distributions and allelic frequencies of either SYN2 or CPLX2 polymorphisms between the schizophrenia and control groups, the two-way haplotype analyses revealed significant associations with the disease (P < 0.05 after Bonferroni correction). The three-way haplotype analyses also revealed a significant association of SYN2 with schizophrenia (P < 0.001 after Bonferroni correction). These results suggest that both SYN2 and CPLX2 may confer susceptibility to schizophrenia in the Korean population.
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DOI：
10.1002/ajmg.1320600316
发表时间：
1995-06-19
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
PULVER, AE;LASSETER, VK;KAZAZIAN, HH
通讯作者：
KAZAZIAN, HH
影响因子：
11
作者：
Eastwood, SL;Harrison, PJ
通讯作者：
Harrison, PJ
影响因子：
3.3
作者：
Eastwood, SL;Cotter, D;Harrison, PJ
通讯作者：
Harrison, PJ
影响因子：
11
作者：
Sklar, P;Pato, MT;Pato, CN
通讯作者：
Pato, CN
影响因子：
10.6
作者：
BROWNING, MD;DUDEK, EM;FREEDMAN, R
通讯作者：
FREEDMAN, R