Hong Chen-Jee, Hou Sheue-Jane, Yen Feng-Chang, Liou Ying-Jay, Tsai Shih-Jen
Department of Psychiatry, Taipei Veterans General Hospital, Taiwan.
Neuroreport. 2006 Jul 17;17(10):1067-9. doi: 10.1097/01.wnr.0000224763.61959.26.
Genetic variations in G72/G30 have been reported to be associated with schizophrenia and bipolar disorders in several case-control studies. This gene is located in a genomic region known to contain susceptibility genes for schizophrenia. As case-control studies carry an increased risk of confounding through population stratification, we investigate whether the rs947267 (A/C) polymorphism is associated with schizophrenia in a family-based association study. This polymorphism is located within the G72/G30 gene and has been previously associated with bipolar disorders. The sample consisted of a total of 216 Chinese families that included an affected offspring and parents. Transmission disequilibrium analysis revealed a significant association between the G72/G30 rs947267 polymorphism and schizophrenia (P=0.016), with the A allele more commonly transmitted to patients. Further analysis stratified by sex showed that the A allele was significantly more overtransmitted than nontransmitted in the trios of male probands (P=0.031), but not in the trios of female probands. Our family-based association study supports the suggestion that the G72/G30 gene may be implicated in susceptibility to schizophrenia and there may be an interaction between this gene and sex in the pathogenesis of schizophrenia.
在多项病例对照研究中，已报道G72/G30基因的遗传变异与精神分裂症和双相情感障碍有关。该基因位于一个已知含有精神分裂症易感基因的基因组区域。由于病例对照研究因人群分层而存在混杂风险增加的问题，我们在一项基于家系的关联研究中调查了rs947267（A/C）多态性是否与精神分裂症相关。这种多态性位于G72/G30基因内，此前已与双相情感障碍相关。样本包括总共216个中国家庭，其中有一个患病后代及其父母。传递不平衡分析显示，G72/G30 rs947267多态性与精神分裂症之间存在显著关联（P = 0.016），A等位基因更常传递给患者。按性别分层的进一步分析表明，在男性先证者三联体中，A等位基因的过度传递显著高于未传递（P = 0.031），但在女性先证者三联体中并非如此。我们基于家系的关联研究支持以下观点：G72/G30基因可能与精神分裂症易感性有关，并且在精神分裂症发病机制中该基因与性别之间可能存在相互作用。
