Wang Qingzhong, He Kuanjun, Li Zhiqiang, Chen Jianhua, Li Wenjin, Wen Zujia, Shen Jiawei, Qiang Yu, Ji Jue, Wang Yujiong, Shi Yongyong
Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University , Shanghai , PR China.
World J Biol Psychiatry. 2014 Sep;15(7):553-60. doi: 10.3109/15622975.2014.915057. Epub 2014 Jul 2.
A recent genome-wide association study (GWAS) of the European population implicated the CMYA5 gene in schizophrenia. Previous functional studies showed that the CMYA5 protein can interact with DTNBP1 and PKA, providing further support for a role of CMYA5 in the pathogenesis of schizophrenia. However, this association requires additional validation in independent populations.
To validate the association between CMYA5 and schizophrenia and major depressive disorder, we genotyped 16 SNPs within the CMYA5 gene and performed case-control studies in 1330 schizophrenia patients, 1045 patients with major depressive disorder, and 1235 normal controls. All patients were of Han Chinese origin.
rs6883197 and rs259127 were significantly associated with schizophrenia, and rs12514461, rs259127, and rs7343 were associated with major depressive disorder. Additionally, one risk haplotype of rs16877109-rs3828611 (G-G) was associated with both schizophrenia (P = 0.0000784, after correction) and major depressive disorder (P = 0.00230, after correction).
Our findings support the idea that specific alleles and haplotype in the CMYA5 confer genetic risk for both schizophrenia and major depressive disorder in the Han Chinese population.
最近一项针对欧洲人群的全基因组关联研究（GWAS）表明，CMYA5基因与精神分裂症有关。先前的功能研究表明，CMYA5蛋白可与DTNBP1和PKA相互作用，这为CMYA5在精神分裂症发病机制中的作用提供了进一步支持。然而，这种关联需要在独立人群中进行额外验证。
为了验证CMYA5与精神分裂症及重度抑郁症之间的关联，我们对CMYA5基因内的16个单核苷酸多态性（SNP）进行了基因分型，并在1330例精神分裂症患者、1045例重度抑郁症患者和1235例正常对照中开展了病例对照研究。所有患者均为汉族。
rs6883197和rs259127与精神分裂症显著相关，rs12514461、rs259127和rs7343与重度抑郁症相关。此外，rs16877109 - rs3828611的一种风险单倍型（G - G）与精神分裂症（校正后P = 0.0000784）和重度抑郁症（校正后P = 0.00230）均相关。
我们的研究结果支持以下观点，即CMYA5中的特定等位基因和单倍型会给汉族人群的精神分裂症和重度抑郁症带来遗传风险。
