Family-based association study of Synapsin II and schizophrenia
Family-based association study of Synapsin II and schizophrenia
复制标题
DOI：
10.1086/425588
复制
发表时间：
2004-11-01
影响因子：
9.8
通讯作者：
He, L
中科院分区：
文献类型：
--
作者：
Chen, Q;He, G;He, L
Synapsin II被认为是精神分裂症易感性的候选基因，这是基于其功能及其在精神分裂症家族连锁研究中涉及的基因组区域中的位置。我们最近在一项病例对照研究中报道了突触素II与精神分裂症的正相关（Chen et al. 2004）。然而，由于病例对照分析可能在存在轻微人群分层的情况下产生假阳性结果，我们通过对3个in/del标记和3个单核苷酸多态性的传递/不平衡分析，对366个汉族先证及其父母进行了复制研究。rs2307981 （P = 0.02）、rs2308169 （P = 0.005）、rs308963 （P = 0.002）、rs795009 （P = 0.02）、rs2307973 （P = 0.02）呈正相关。对于六标记单倍型的传播，总体P值为。0000016（5个自由度），主要是由于最常见的单倍型CAA/-/G/T/C/-的过传(频率53.6%;chi(2) = 20.8；P = .0000051)。这证实了我们之前的研究，并进一步支持突触素II变异在精神分裂症易感性中的作用。
Synapsin II has been proposed as a candidate gene for vulnerability to schizophrenia on the basis of its function and its location in a region of the genome implicated by linkage studies in families with schizophrenia. We recently reported positive association of synapsin II with schizophrenia in a case-control study (Chen et al. 2004). However, since case-control analyses can generate false-positive results in the presence of minor degrees of population stratification, we have performed a replication study in 366 additional Han Chinese probands and their parents by use of analyses of transmission/disequilibrium for three in/del markers and three single-nucleotide polymorphisms. Positive association was observed for rs2307981 (P = .02), rs2308169 (P = .005), rs308963 (P = .002), rs795009 (P = .02), and rs2307973 (P = .02). For transmission of six-marker haplotypes, the global P value was .0000016 (5 degrees of freedom), principally because of overtransmission of the most common haplotype, CAA/-/G/T/C/- (frequency 53.6%; chi(2) = 20.8; P = .0000051). This confirms our previous study and provides further support for the role of synapsin II variants in susceptibility to schizophrenia.