Wang Guo-xia, Zhang Yong, Lv Zhuang-wei, Sun Mao, Wu Dan, Chen Xin-yu, Wu Yuan-ming
1. Center for DNA Typing, the Fourth Military Medical University, Xi'an, 710032, China ; 2. Department of Biochemistry and Molecular Biology, the Fourth Military Medical University, Xi'an, 710032, China.
3. Department of Anatomy, Histology and Embryology, K. K. Leung Brain Research Centre, the Fourth Military Medical University, Xi'an, 710032, China.
Int J Med Sci. 2014 Sep 19;11(12):1234-9. doi: 10.7150/ijms.9426. eCollection 2014.
Accumulating evidence has shown that alterations in one carbon metabolism might play an important role in the pathogenesis of schizophrenia (SZ). Nicotinamide-N-methyltransferase (NNMT) is one of the key enzymes of one-carbon metabolism. To examine whether NNMT gene was associated with SZ in Han Chinese population, we selected seven single nucleotide polymorphisms (SNPs) in NNMT gene, and investigated its association with SZ from a cohort of 42 SZ patients and 86 healthy controls by Mass-ARRAY technology. Statistical analyses revealed that one (rs694539) of the SNPs in the female subgroup showed significant difference between SZ patients and controls both in genotypic (p= 0.0170) and allelic frequencies (p = 0.0059). We also found that the frequency of haplotype 'A G G C T C T' in the female patients was significantly higher than in controls (p=0.0015). Our results suggest that NNMT rs694539 may have a role in the etiology of SZ in a Han Chinese female population.
越来越多的证据表明，一碳代谢的改变可能在精神分裂症（SZ）的发病机制中起重要作用。烟酰胺-N-甲基转移酶（NNMT）是一碳代谢的关键酶之一。为了研究NNMT基因是否与汉族人群中的SZ相关，我们在NNMT基因中选择了7个单核苷酸多态性（SNP），并通过Mass-ARRAY技术从42例SZ患者和86例健康对照的队列中研究其与SZ的关联。统计分析显示，女性亚组中的一个SNP（rs694539）在基因型（p = 0.0170）和等位基因频率（p = 0.0059）上在SZ患者和对照之间均显示出显著差异。我们还发现，女性患者中“AGGCCTC”单倍型的频率显著高于对照组（p = 0.0015）。我们的结果表明，NNMT rs694539可能在汉族女性人群SZ的病因中起作用。
