Hänninen Kari, Katila Heikki, Anttila Sami, Rontu Riikka, Maaskola Julius, Hurme Mikko, Lehtimäki Terho
Department of Psychiatry, South Karelia Central Hospital, Valto Käkelän katu 14C/6, FIN-53130 Lappeenranta, Finland.
J Psychiatr Res. 2007 Jan-Feb;41(1-2):8-14. doi: 10.1016/j.jpsychires.2005.07.001. Epub 2005 Aug 22.
There is evidence to suggest that dysfunction of dopaminergic neurotransmission in the central nervous system (CNS) plays a role in the etiopathology of schizophrenia. Epidermal growth factor (EGF) gene polymorphism has an impact on EGF production in mononuclear cells, and EGF seems to affect the development of midbrain dopaminergic neurons. The few studies concerning EGF gene polymorphism and schizophrenia have yielded contradictory results. Our aim was to investigate whether EGF gene A61G polymorphism predisposes to schizophrenia, and this polymorphism was therefore studied in 149 schizophrenic patients and in 94 healthy controls using 5' nucleotidase assay (TaqMan). As far as EGF A61G polymorphism was concerned, we detected no significant differences in the allele and genotype frequencies between the patients and the controls. However, the G/G genotype was significantly associated with an earlier age of onset of schizophrenic psychosis in male subjects (P=0.005) as well as in the entire population, but not in female patients (P=0.008 and 0.46, respectively). The average age (+/-SD) of onset of schizophrenia was 20.1+/-3.9 years in male EGF A61G G/G homozygotes and 23.7+/-6.6 (P=0.02) years in other genotypes. In conclusion, EGF gene polymorphism was not associated with the risk of schizophrenia. However, the EGF G/G genotype, which has been suggested to involve abundant production of EGF, was associated with early onset of schizophrenia in male patients.
有证据表明，中枢神经系统（CNS）中多巴胺能神经传递功能障碍在精神分裂症的病因学中起作用。表皮生长因子（EGF）基因多态性对单核细胞中EGF的产生有影响，并且EGF似乎影响中脑多巴胺能神经元的发育。少数关于EGF基因多态性与精神分裂症的研究得出了相互矛盾的结果。我们的目的是研究EGF基因A61G多态性是否易患精神分裂症，因此使用5'核苷酸酶分析（TaqMan）对149例精神分裂症患者和94例健康对照进行了该多态性研究。就EGF A61G多态性而言，我们在患者和对照之间未检测到等位基因和基因型频率的显著差异。然而，G/G基因型与男性受试者（P = 0.005）以及整个人口中精神分裂症精神病的较早发病年龄显著相关，但在女性患者中不相关（分别为P = 0.008和0.46）。男性EGF A61G G/G纯合子中精神分裂症的平均发病年龄（±标准差）为20.1±3.9岁，其他基因型为23.7±6.6岁（P = 0.02）。总之，EGF基因多态性与精神分裂症的风险无关。然而，已被认为涉及EGF大量产生的EGF G/G基因型与男性患者精神分裂症的早发有关。
