Wang Qingzhong, Ji Weidong, He Kuanjun, Li Zhiqiang, Chen Jianhua, Li Wenjin, Wen Zujia, Shen Jiawei, Yu Qiang, Feng Guoyin, Ji Jue, Wang Yujiong, Shi Yongyong
Institute of Social Cognitive and Behavioral Sciences.
Bio-X Institutes and Affiliated Changning Mental Health Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education).
Psychiatr Genet. 2018 Feb;28(1):1-7. doi: 10.1097/YPG.0000000000000185.
AIM/OBJECTIVES/BACKGROUND: ZNF804A has been investigated widely as a candidate susceptibility gene for mental disorders in individuals of different ethnicities. However, in the Han Chinese population, most studies of this gene have focused on associations of the common single nucleotide polymorphism (SNP) rs1344706.
To investigate additional common variants within ZNF804A, we carried out a case-control study of 13 SNPs distributed across the whole gene, in 1330 schizophrenic patients, 1045 major depressive disorder patients, and 1235 normal controls.
We found that rs12476147 (P=0.0078) was associated significantly with schizophrenia, but no SNPs showed statistically significant associations with major depressive disorder after Bonferroni correction. Moreover, we also found that haplotype block 2, which included rs12476147 and rs1344706, was associated significantly with schizophrenia and major depressive disorder. Nevertheless, we could not replicate the association of rs1344706 with schizophrenia. In conclusion, the common variant rs12476147 and the related haplotype block in ZNF804A were associated significantly with schizophrenia in the Han Chinese population.
目的/目标/背景：锌指蛋白804A（ZNF804A）已被广泛研究，作为不同种族个体精神障碍的候选易感基因。然而，在汉族人群中，对该基因的大多数研究都集中在常见单核苷酸多态性（SNP）rs1344706的关联性上。
为了研究ZNF804A内的其他常见变异，我们对分布于整个基因的13个SNP进行了病例对照研究，研究对象包括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。
我们发现rs12476147（P = 0.0078）与精神分裂症显著相关，但经Bonferroni校正后，没有SNP与重度抑郁症表现出统计学显著关联。此外，我们还发现包含rs12476147和rs1344706的单倍型模块2与精神分裂症和重度抑郁症显著相关。然而，我们无法重复rs1344706与精神分裂症的关联性。总之，ZNF804A中的常见变异rs12476147及相关单倍型模块在汉族人群中与精神分裂症显著相关。
