Laboratory of Genomic Diversity, Department of Life Science, Sogang University, Shinsu-dong, Mapo-gu, Seoul 121-742, Republic of Korea.
Brain Res. 2012 Jul 23;1466:146-51. doi: 10.1016/j.brainres.2012.05.029. Epub 2012 May 23.
The human receptor tyrosine-protein kinase erbB-4 (ERBB4) gene mediates neuregulin 1 (NRG1) signaling, and is involved in neuronal migration and differentiation. Despite the potential significance of ERBB4 in the development of schizophrenia, relatively few genetic studies for the association of ERBB4 with schizophrenia were performed in the populations including Ashkenazi Jews, Americans including Caucasians and African Americans, and Han Chinese. In this study, differences in ERBB4 variations were investigated to determine association with schizophrenia and smooth pursuit eye movement (SPEM) abnormality in a Korean population. Seven polymorphisms in ERBB4 gene were genotyped in 435 schizophrenia cases and 390 unrelated healthy controls. In order to investigate the relationship between ERBB4 and the risk of schizophrenia and SPEM abnormality, differences in SNP and haplotype distribution were analyzed using logistic and multiple regression analyses. However, we failed to replicate the associations reported by previous studies in other populations. Although statistically not significant, the tendency towards associations between ERBB4 polymorphisms and the risk of schizophrenia and SPEM abnormality in this study from a Korean population would be helpful for further genetic etiology studies in schizophrenia.
人类受体酪氨酸蛋白激酶 erbB-4（ERBB4）基因介导神经调节蛋白 1（NRG1）信号转导，并参与神经元迁移和分化。尽管 ERBB4 在精神分裂症的发展中具有潜在意义，但在包括阿什肯纳兹犹太人、包括白种人和非裔美国人的美国人以及汉族在内的人群中，针对 ERBB4 与精神分裂症关联的遗传研究相对较少。在这项研究中，我们研究了 ERBB4 变异的差异，以确定其与韩国人群精神分裂症和平滑追随眼动（SPEM）异常的关联。在 435 例精神分裂症病例和 390 例无关的健康对照中，对 ERBB4 基因中的 7 个多态性进行了基因分型。为了研究 ERBB4 与精神分裂症和 SPEM 异常风险的关系，使用逻辑回归和多元回归分析分析了 SNP 和单倍型分布的差异。然而，我们未能复制其他人群先前研究报告的关联。尽管在统计学上不显著，但这项来自韩国人群的研究中 ERBB4 多态性与精神分裂症和 SPEM 异常风险之间的关联趋势，将有助于进一步开展精神分裂症的遗传病因学研究。
