Zhang Chen, Fang Yiru, Xie Bin, Cheng Wenhong, Du Yasong, Wang Dongxiang, Yu Shunying
Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
Neurosci Lett. 2009 Oct 25;462(3):308-11. doi: 10.1016/j.neulet.2009.06.085. Epub 2009 Jul 2.
Consistent evidence indicated that aberrant DNA methylation may be involved in the development of schizophrenia. DNA methyltransferase 3B (DNMT3B) is the key methyltransferase in DNA methylation regulations. In this study, we investigated the association between DNMT3B polymorphisms and the susceptibility of early onset schizophrenia in Chinese Han population.
Case-control (patients=381 and controls=472) and family based (trios=103) study was performed through genotyping two tag single nucleotide polymorphisms (rs2424908 and rs6119954) covering the whole DNMT3B gene. Single nucleotide polymorphism association and haplotype analysis were performed.
The frequency of G allele of rs6119954 was significantly higher in patients than that in controls (P=0.017). Genotype distribution of rs6119954 was significantly different between patients and controls (P=0.046). A haplotype-wise analysis revealed a higher frequency of the T-G (rs2424908-rs6119954) haplotype in patients than that in controls (P=0.033). In the transmission disequilibrium test analysis, G allele of rs6119954 was preferentially transmitted in the trios (P=0.030).
Our findings indicate that DNMT3B may be a candidate gene for susceptibility to early onset schizophrenia.
一致的证据表明，异常的DNA甲基化可能参与精神分裂症的发生发展。DNA甲基转移酶3B（DNMT3B）是DNA甲基化调控中的关键甲基转移酶。在本研究中，我们调查了中国汉族人群中DNMT3B基因多态性与早发性精神分裂症易感性之间的关联。
通过对覆盖整个DNMT3B基因的两个标签单核苷酸多态性（rs2424908和rs6119954）进行基因分型，开展病例对照研究（患者381例，对照472例）和基于家系的研究（三联体103个）。进行单核苷酸多态性关联分析和单倍型分析。
rs6119954的G等位基因频率在患者中显著高于对照组（P = 0.017）。rs6119954的基因型分布在患者和对照组之间存在显著差异（P = 0.046）。单倍型分析显示，患者中T-G（rs2424908-rs6119954）单倍型的频率高于对照组（P = 0.033）。在传递不平衡检验分析中，rs6119954的G等位基因在三联体中优先传递（P = 0.030）。
我们的研究结果表明，DNMT3B可能是早发性精神分裂症易感性的候选基因。
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