Department of Genetics and Molecular Biology, Xi'an Jiaotong University College of Medicine, Xi'an, Shaanxi 710061, China; Xi'an Hong Hui Hospital, the Affiliated Hospital of Xi'an Jiaotong University College of Medicine, Xi'an, Shaanxi, China.
Prog Neuropsychopharmacol Biol Psychiatry. 2013 Oct 1;46:64-9. doi: 10.1016/j.pnpbp.2013.05.015. Epub 2013 Jun 15.
Recently, CMYA5 was suggested as a susceptibility gene for schizophrenia based on two independent studies utilizing different ethnic samples. We designed a case-control study to examine whether 21 SNPs contained within CMYA5 were associated with the disorder in a western Han Chinese sample comprised of 488 schizophrenia patients and 516 healthy control subjects. The allele distribution of SNPs rs7714250, rs16877135 and rs13158477 showed significant association with schizophrenia (Puncorrected=0.008, Puncorrected=0.04, and Puncorrected=0.009, respectively) as well as the genotype distribution in the Cochran-Armitage trend test (Puncorrected=0.008, Puncorrected=0.037 and Puncorrected=0.011, respectively). After Bonferroni correction, rs7714250 showed a trend of association with schizophrenia both in allele distribution (Pcorrected=0.088) and genotype distribution (Pcorrected=0.088). Furthermore, significant associations were found in several two-, three-, four-, and five-SNP tests of haplotype analyses. Replications of the association of CMYA5 with schizophrenia across various studies suggest that it is very likely a potential common schizophrenia-related gene worldwide. Functional studies correlating CMYA5 with DTNBP1 and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway(s) underlying the pathogenesis of schizophrenia.
最近，基于两项利用不同种族样本的独立研究，CMYA5 被认为是精神分裂症的易感基因。我们设计了一项病例对照研究，以检验在一个由 488 名精神分裂症患者和 516 名健康对照组成的西方汉族样本中，CMYA5 内的 21 个 SNP 是否与该疾病有关。SNP rs7714250、rs16877135 和 rs13158477 的等位基因分布与精神分裂症显著相关（未校正 P 值分别为 0.008、0.04 和 0.009），并且 Cochran-Armitage 趋势检验的基因型分布也显著相关（未校正 P 值分别为 0.008、0.037 和 0.011）。经过 Bonferroni 校正后，rs7714250 在等位基因分布（校正 P 值为 0.088）和基因型分布（校正 P 值为 0.088）中均显示出与精神分裂症的关联趋势。此外，在单倍型分析的两、三、四和五个 SNP 检验中也发现了显著的关联。CMYA5 与精神分裂症的关联在不同研究中的复制表明，它很可能是一种全球范围内潜在的与精神分裂症相关的常见基因。将 CMYA5 与 DTNBP1 和 PKA 相关联的功能研究需要进一步研究该基因与精神分裂症发病机制的信号转导通路之间的分子基础。
