自闭症易感候选基因2单核苷酸多态性与海洛因依赖群体的相关性研究

Association of the Single Nucleotide Polymorphisms of Autism Susceptibility Candidate 2 with Heroin Dependence of Chinese Han Population

目的探讨自闭症易感候选基因2(autism susceptibility candidate 2,AUTS2)单核苷酸多态性(single nucleotide polymorphism,SNP)与中国汉族群体海洛因依赖的相关性。方法采用病例对照研究,选取430例海洛因依赖患者(海洛因依赖组)及420例健康人群(健康对照组),采集其血样并收集相应临床资料。采用荧光标记单碱基延伸的SNPshot技术对AUTS2 rs2270162(启动子区)、rs6943555(内含子4)、rs2293507(外显子7)、rs1918425(3’侧翼区)共4个多态性位点进行分型,比较两组基因型分布频率。结果 AUTS2 rs6943555基因型频率分布在海洛因依赖组及健康对照组差异有统计学意义(χ~2=12.150,P=0.002)。与健康对照组相比,海洛因依赖组rs6943555 A等位基因频率高于健康对照组(χ~2=12.444,P=0.0004,OR=1.419,95%CI=1.168~1.724)。结论 AUTS2基因rs6943555可能与海洛因依赖有关,携带有rs6943555 A等位基因个体更易对海洛因依赖。

Objective To explore the possible association between polymorphisms in autism susceptibility candidate 2( AUTS2) gene and heroin dependence among Han heroin dependent patients. Methods Genomic DNA was isolated from the venous blood leukocytes of 430 unrelated patients with heroin dependence and 420 healthy unrelated controls. The rs2270162( promoter),rs6943555( intron 4),rs2293507( Exon 7),rs1918425( 3'near) were genotyped using SNPshot system. Results There was significant difference in the genotype frequency of rs6943555 between the heroin dependence group and healthy control group( χ2=12. 150,P = 0. 002). The frequency of A allele in the heroin dependence group was significantly higher than that of controls( χ2= 12. 444,P = 0. 0004,OR = 1. 419,95% CI = 1. 168 ~ 1. 724). Conclusion These findings support a role of AUTS2 rs6943555 polymorphisms in heroin dependence and may guide future studies to identify other genetic risk factors for heroin dependence.