脑源性神经营养因子基因多态性与注意缺陷多动障碍的关联性研究

目的：探讨脑源性神经营养因子（Brain-derivedneurotrophicfactor,BDNF）G196A、C270T及Val66Met3个单核苷酸多态性（SNP）位点与注意缺陷多动障碍（ADHD）的关系。方法：选取无亲缘关系的ADHD患者共114例,健康对照共96例。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测G196A、C270T和Val66Met3个多态性位点的多态性,采用HaploView4.0及SPSS13.0软件进行连锁不平衡分析并比较两组基因型分布和等位基因频率。结果：BDNF三个多态性位点基因型及等位基因频率分布均符合Hardy-Weinberg定律。ADHD组G196A和C270T多态性位点分布与正常对照组比较差异无统计学意义,而BDNF基因Val66Met位点的基因型及等位基因频率分布在ADHD组与对照组存在显著性差异（p〈0.05）,ADHD组Val66Met位点的等位基因G（Val）频率显著高于正常对照组。结论：BDNF基因Val66Met多态性可能与ADHD发病有关,携带有Val66Met多态性位点G等位基因的个体可能更容易产生ADHD。

Association between Gene Polymorphism of Brain-derived Neurotrophic Factor and Attention Deficit Hyperactivity Disorder

Objective：To investigate the relationship between the G196A,C270T and Val66Met polymorphisms of Brain-derived neurotrophic factor（BDNF） gene and attention deficit hyperactivity disorder（ADHD）.Methods：Genomic DNA was isolated from the venous blood leukocytes of 114 unrelated patients with ADHD based on DSM-IV criteria and 96 healthy unrelated individuals（control group）.Polymorphism of G196A,C270T and Val66Met,were genotyped by PCR-restriction fragment length polymorphisms（PCR-RFLP）.The software HaploView4.0 and SPSS13.0 was used to detect the linkage disequilibrium,Genotype and allele frequencies of the SNPs of BDNF gene in the ADHD and control group.Results：The genotypic distributions of these 3 SNPs did not deviate signifi-cantly from Hardy-Weinberg equilibrium（p〉0.05）.There were significant differences in both allele and genotype frequencies of Val66Met between the ADHD and control group（p〈0.05）.The allele G of Val66Met was significantly higher than that of controls（x2=9.714,p=0.002,OR=0.522,95%CI=0.347～0.788）.No significant differences in both allele and genotype frequencies of G196A and C270T was found between the ADHD and control group（p〉0.05）.Conclusion：There was reltionship between Val66Met polymor-phism and ADHD.The individuals with G（Val） allele of Val66Met were susceptible to ADHD.