Ma Gang, Shi YongYong, Tang Wei, He ZangDong, Huang Ke, Li ZhiQiang, He Guang, Feng GuoYin, Li HuaFang, He Lin
Bio-X Center, PO Box 501, Hao Ran Building, Shanghai Jiao Tong University, 1954 Hua Shan Road, Shanghai 200030, China.
Neurosci Lett. 2007 Oct 2;425(3):146-50. doi: 10.1016/j.neulet.2007.07.055. Epub 2007 Aug 15.
The strong association between common psychiatric disorders and the 22q11.2 microdeletion suggests that haploinsufficiency of one or more genes in the region confers susceptibility to these disorders. Recent mouse studies have shown that the T-box 1 (TBX1) gene in the 22q11.2 region can cause prepulse inhibition (PPI) impairment in the heterozygous state. A study has also shown that phenotypic features of 22q11 deletion syndrome (22q11DS) were segregated with an inactivating mutation of TBX1 in one family, suggesting that the TBX1 gene plays a role in the pathogenesis of some psychiatric disorders. We performed an association study between three single nucleotide polymorphisms (SNPs) in the TBX1 gene and schizophrenia. However, we found no significant difference in the genotype or allele distributions between the 328 schizophrenics and 288 controls for any of the polymorphisms, nor was there any haplotype association. Our data suggest that the genetic polymorphisms within TBX1 do not confer an increased susceptibility to schizophrenia in the Chinese population.
常见精神疾病与22q11.2微缺失之间的强关联表明，该区域一个或多个基因的单倍剂量不足会使人易患这些疾病。最近的小鼠研究表明，22q11.2区域的T-box 1（TBX1）基因在杂合状态下可导致前脉冲抑制（PPI）受损。一项研究还表明，在一个家族中，22q11缺失综合征（22q11DS）的表型特征与TBX1的失活突变相关，这表明TBX1基因在某些精神疾病的发病机制中起作用。我们对TBX1基因中的三个单核苷酸多态性（SNP）与精神分裂症进行了关联研究。然而，我们发现，对于任何多态性，328例精神分裂症患者和288例对照在基因型或等位基因分布上均无显著差异，也没有单倍型关联。我们的数据表明，TBX1基因内的遗传多态性不会增加中国人群患精神分裂症的易感性。
