Department of Life Science, Sogang University, Seoul, 121-742, Republic of Korea.
J Mol Neurosci. 2012 Mar;46(3):476-82. doi: 10.1007/s12031-011-9619-y. Epub 2011 Aug 20.
Schizophrenia is a serious and disabling mental disorder with a high heritability rate. The human neuregulin 1 (NRG1) on 8p12 has been implicated as a candidate gene for schizophrenia. However, controversial results of the associations of NRG1 polymorphisms with schizophrenia and related phenotypes have been reported. In this study, four NRG1 single nucleotide polymorphisms, three in the promoter region, and one nonsynonymous in coding region, were genotyped in a total of 825 subject including 435 schizophrenia cases and 390 normal controls of Korean ethnicity. Although logistic association analysis of NRG1 polymorphisms and haplotypes with schizophrenia showed a nominal association in rs4623364G > C (P = 0.04), the significance disappeared after corrections for multiple testing (corrected P > 0.05). Additional case/control and multiple regression analyses in schizophrenia patients using a method that measures the smooth pursuit eye movement (SPEM) function globally based on natural logarithmic values of the signal/noise ratio also showed no association between NRG1 variants and SPEM abnormality among patients with schizophrenia (P > 0.05). Despite the need for further replications in other cohorts, our findings provide additional supporting information that four variants in NRG1 investigated in this study may not be associated with schizophrenia and its related SPEM function in a Korean population.
精神分裂症是一种严重且致残的精神障碍,具有较高的遗传性。人类神经调节蛋白 1(NRG1)位于 8p12,已被认为是精神分裂症的候选基因。然而,NRG1 多态性与精神分裂症及相关表型的关联研究结果存在争议。本研究在韩国人群中,共对 825 例个体(包括 435 例精神分裂症患者和 390 例正常对照)进行了 NRG1 四个单核苷酸多态性(三个位于启动子区,一个位于编码区非 synonymous)的基因分型。尽管对 NRG1 多态性和单体型与精神分裂症的逻辑关联分析显示 rs4623364G>C 存在显著关联(P=0.04),但在进行多重检验校正后(校正后 P>0.05),该关联不再显著。在精神分裂症患者中,使用一种基于信号/噪声比自然对数值来整体测量平滑追踪眼动(SPEM)功能的方法进行病例对照和多元回归分析,也显示 NRG1 变异与精神分裂症患者的 SPEM 异常之间没有关联(P>0.05)。尽管需要在其他队列中进行进一步验证,但我们的研究结果提供了更多的支持信息,表明在本研究中研究的 NRG1 的四个变体可能与韩国人群中的精神分裂症及其相关的 SPEM 功能无关。