GRIN1基因与双相情感障碍的关联研究

［摘要］ 目的 探讨谷氨酸受体离子化NMDA1 受体基因(GRIN1) 在双相情感障碍(BD, bipolar disorder)的发病机制中是否发挥作用。 方法 收集BD患者EDTA-K2抗凝静脉血70份,健康体检人员EDTA-K2抗凝静脉血100份,分离DNA,从GRIN1基因调控区G1001C（rs11146020）上取1个SNP位点（-855G/C）,采用PCR和RFLP分析技术,对其进行单核苷酸多态性分析。 结果 两试验组中基因型GC和CC携带者患BD的可能性分别是GG基因型的3.014和3.500倍。 结论 GRIN1 基因调控区上的rs11146020与双相情感障碍发病的关联有统计学意义(P<0.05),提示该GRIN1基因是双相情感障碍的易感基因之一。

An association study between grin1 genes and bipolar disorder

Abstract： ［AIM］Bipolar disorder is a serious, complex, and familial incidence of mental disease,displaying recurrent depression and mania. Lithium salt and Sodium Valproate are the two major mood-stablizier for treating bipolar disorder,Pathology studies discover that the two drugs play their effection by N-methyl-D-aspartate receptor(NMDAR),which illustrate NMDAR is important to bipolar disorder. This study aims to evaluate the role of inherited gene variations in GRIN1 gene in human bipolar disorder.［METHODS］we collected 70 EDTA-K2-anticoagulate venous blood samples of BD patients and 100 samples of physical examination people and separated their DNA, we selected one single nucleotide polymorphisms in GRIN1 regulatory region G1001C（rs11146020）,we analyzed mononucleotide polymorphism by polymerase chain reaction and restriction fragment length polymorphism techniques. ［RESULTS］ The carriers` genotype GC is 3.014 times to GG,and CC is 3.5 times to GG.［CONCLUSION］It was analyzed that the gene sequence and the site of GRIN1 gene control region , The significant results were obtained, showing that the SNPs in GRIN1 gene were related to the BD (P < 0.05). These results confirm that the GRIN1 gene confers susceptibility to bipolar disorder.