Chen Qing-Ying, Chen Qi, Feng Guo-Yin, Lindpaintner Klaus, Chen Yi, Sun Xiaodong, Chen Zhengxiong, Gao Zhensong, Tang Jisheng, He Lin
Institute for Nutritional Sciences, SIBS, Chinese Academy of Sciences, 319 Yue Yang Road, Shanghai 200031, PR China.
Schizophr Res. 2005 Mar 1;73(2-3):269-74. doi: 10.1016/j.schres.2004.06.001.
The close homolog of L1 (CHL1), located on human chromosome 3p26.1, is a newly identified member of the L1 family of cell adhesion molecules which play important roles in cell migration, axonal growth, and synaptic remodeling. A positive association has been reported between a missense polymorphism in CHL1 gene and schizophrenia in the Japanese population [Sakurai, K., Migita, O., Toru, M., Arinami, T., 2002. An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. Mol. Psychiatry 7, 412-415]. An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. In order to test this finding, we genotyped four SNPs in the gene in the Han Chinese population using a sample of 560 cases and 576 controls. Analysis of allele frequencies in both samples also showed strong association between SNP rs2272522 (the same marker studied by K. Sakurai) and the disease (X2=31.591, P<0.000001, OR=1.745, 95% CI=1.435-2.121). Our results confirm the positive association between CHL1 gene and schizophrenia and indicate that CHL1 may be involved in the etiology of schizophrenia.
L1紧密同源物（CHL1）位于人类染色体3p26.1上，是细胞黏附分子L1家族新鉴定出的成员，该家族在细胞迁移、轴突生长和突触重塑中发挥重要作用。在日本人群中，已报道CHL1基因的一个错义多态性与精神分裂症之间存在正相关[Sakurai, K., Migita, O., Toru, M., Arinami, T., 2002. L1紧密同源物（CHL1, CALL）基因的一个错义多态性与精神分裂症之间的关联。《分子精神病学》7, 412 - 415]。L1紧密同源物（CHL1, CALL）基因的一个错义多态性与精神分裂症之间的关联。为了验证这一发现，我们使用560例病例和576例对照的样本，对汉族人群该基因中的4个单核苷酸多态性（SNP）进行了基因分型。对两个样本的等位基因频率分析还显示，SNP rs2272522（与K. Sakurai研究的相同标记）与疾病之间存在强关联（X2 = 31.591, P < 0.000001, OR = 1.745, 95% CI = 1.435 - 2.121）。我们的结果证实了CHL1基因与精神分裂症之间的正相关，并表明CHL1可能参与了精神分裂症的病因学。
