5-羟色胺转运体基因多态性及强迫症相关性探究.doc

5-羟色胺转运体基因多态性及强迫症相关性探究[摘要] 目的 探讨5-羟色胺转运体基因多态性与强迫症发病的相关性。方法 采用聚合酶链反应扩增技术测定强迫症患者和健康人的SLC6A4基因型。结果 强迫症组SLC6A4第2内含子的基因型及等位基因分布与对照组间的差异有统计学意义(P0.05)。结论 SLC6A4基因可能与强迫症存在遗传关联,第2内含子的10和12/10基因型、启动子的L/L基因型可能是强迫症的风险因子。 [关键词] 强迫性障碍;基因;多态性;限制性片段长度;5-羟色胺转运体 [中图分类号] R749.5 [文献标识码] A[文章编号] 1673-9701(2010)02-09-03 Association between 5- Serotonin Transporter Gene Polymorphism and Obsessive-Compulsive Disorder FENG Dongmei1GAN Luchun1LIANG Songyou1LIU Jinying1DAI Juan1SHI Qiao1HAN Zili2TAO Jiong2 1.Psychology Department,Zhongshan Municipal Central Hospital,Zhongshan 528400,China;2. Psychology Department,the Third Affiliated Hospital of Zhongshan University,Guangzhou 510000,China [Abstract] Objective To explore the association between 5- serotonin transporter gene polymorphism(SLG6A4) and obsessive-compulsive disorder(OCD). Methods Altogether 50 unrelated OCD patients and 60 sex-matched healthy controls were included in this study and all the subjects were genotyped directly by using polymerase chain reaction amplification fragment length polymorphism techniques. Results There were significant differences between patients and controls in the SLC6A4 intron 2 genotype and allele distribution(χ2=10.42, P=0.005; χ2=6.061, P=0.048). Allele 10 and genotype 12/10 of intron 2 and genotype L/L of promoter of SLC6A4 were positively associated with OCD. There was no significant difference in the genotype of SLC6A4 in the sex between the two groups.Conclusion The polymorphism of SLC6A4 gene may be associated with OCD,and its allele 10 and the genotype 12/10 intron 2 or genotype L/L of promoter may be risk factors for OCD. [Key words] Obsessive-compulsive disorder;Gene;Polymorphism;Reaction fragment length;Serotonin transporter 强迫症(obsessive-compulsive disorder,OCD)是一种慢性精神障碍性疾病,其主要症状为反复出现的强迫观念和强迫动作,患者明知道没意义却无法摆脱;强迫症的终生患病率为2%～3%,有超过10%的强迫症患者对系统规范的药物治疗和行为治疗无效或效果不佳。强迫症由于其难治性和高致残性而引起人们的重视。至今OCD的病因尚不明确,随着分子遗传学技术的进步,基因在OCD的发病中的作用日益受到重视[1],许多研究显示基因在强迫症的发病中可能具有重要作用并提出了大量“候选基因”,近年来