Liou Ying-Jay, Lai I-Ching, Wang Ying-Chieh, Bai Ya-Mei, Lin Chao-Cheng, Lin Chih-Yuan, Chen Tzu-Ting, Chen Jen-Yeu
Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Schizophr Res. 2006 Jun;84(2-3):236-43. doi: 10.1016/j.schres.2006.02.021. Epub 2006 Apr 17.
Numerous linkage studies suggest that chromosome 5q may be one of the important cytogenetic regions containing risk loci for schizophrenia susceptibility. Recently, genetic variations (rs254664 and rs10046055) in the intron 1 and 5' flanking regions of the ENTH (also known as Epsin 4) gene, which is located in 5q 33.3, have been demonstrated to be significantly associated with schizophrenia. The present study investigates whether this finding could be replicated in a population of Han Chinese, consisting of 269 patients with schizophrenia and 236 normal controls, by analyzing 9 single nucleotide polymorphisms (SNPs) ranging from the 5' upstream region to intron 8 of the ENTH gene and covering 96 kb. The results showed that we failed to identify the associations of rs1186922 and rs10046055 with schizophrenia. Although another genetic variation (rs1186922) showed a weak association with schizophrenia (uncorrected p value for alleles = 0.038), the significance did not survive after Bonferroni correction. This study thus fails to support an association of genetic variations in the ENTH gene and schizophrenia.
大量连锁研究表明，5号染色体长臂（5q）可能是包含精神分裂症易感性风险基因座的重要细胞遗传学区域之一。最近，位于5q33.3的ENTH（也称为Epsin 4）基因内含子1和5'侧翼区域的基因变异（rs254664和rs10046055）已被证明与精神分裂症显著相关。本研究通过分析ENTH基因从5'上游区域到内含子8的9个单核苷酸多态性（SNP），覆盖96kb，来调查这一发现是否能在由269例精神分裂症患者和236例正常对照组成的汉族人群中得到重复验证。结果显示，我们未能发现rs1186922和rs10046055与精神分裂症之间的关联。尽管另一个基因变异（rs1186922）与精神分裂症显示出弱关联（等位基因的未校正p值 = 0.038），但在Bonferroni校正后该显著性消失。因此，本研究未能支持ENTH基因的基因变异与精神分裂症之间存在关联。
