Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese.
Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese.
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汉族精神分裂症CACNA1D常见变异的遗传易感性评价
DOI：
10.1038/srep12935
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发表时间：
2015-08-10
影响因子：
4.6
通讯作者：
Liu X
中科院分区：
文献类型：
--
作者：
Guan F;Li L;Qiao C;Chen G;Yan T;Li T;Zhang T;Liu X
精神分裂症（SCZ）的遗传度估计高达80%，提示遗传因素在SCZ的病因学中可能起重要作用。由CACNA1C编码的Cav1.2和由CACNA1D编码的Cav1.3是L型电压依赖性钙通道的主要钙通道形成亚基，在许多类型的神经元中表达。CACNA1C一直被认为是SCZ的风险基因，但它是未知的CACNA1D。为了研究CACNA1D与SCZ的相关性，我们设计了一个两阶段的病例对照研究，包括一个测试集1117例病例和1815名对照，以及一个验证集1430例病例和4295名对照。对CACNA1D中97个标签单核苷酸多态性（SNP）进行基因分型，并在两个独立的数据集中进行单SNP关联、插补分析和性别特异性关联分析。未发现与SCZ相关。进一步的基因型和单倍型关联分析表明，在两阶段的研究中有类似的模式。我们的研究结果提示CACNA1D可能不是中国汉族人群SCZ的危险基因，这增加了目前关于CACNA1D对SCZ易感性的认识。
The heritability of schizophrenia (SCZ) has been estimated to be as high as 80%, suggesting that genetic factors may play an important role in the etiology of SCZ. Cav1.2 encoded by CACNA1C and Cav1.3 encoded by CACNA1D are dominant calcium channel-forming subunits of L-type Voltage-dependent Ca2+ channels, expressed in many types of neurons. The CACNA1C has been consistently found to be a risk gene for SCZ, but it is unknown for CACNA1D. To investigate the association of CACNA1D with SCZ, we designed a two-stage case-control study, including a testing set with 1117 cases and 1815 controls and a validation set with 1430 cases and 4295 controls in Han Chinese. A total of selected 97 tag single nucleotide polymorphisms (SNPs) in CACNA1D were genotyped, and single-SNP association, imputation analysis and gender-specific association analyses were performed in the two independent datasets. None was found to associate with SCZ. Further genotype and haplotype association analyses indicated a similar pattern in the two-stage study. Our findings suggested CACNA1D might not be a risk gene for SCZ in Han Chinese population, which add to the current state of knowledge regarding the susceptibility of CACNA1D to SCZ.
影响因子：
2.9
作者：
Curtis, David;Xu, Ke
通讯作者：
Xu, Ke