5-羟色胺转运体基因多态性与强迫症的相关性研究

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);等位基因10,12/10基因型和启动子的L/L基因型与强迫症存在显著正关联(P0.05);强迫症组及对照组内不同性别间基因型分布的差异均无统计学意义(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。

Association between 5-Serotonin Transporter Gene Polymorphism and Obsessive-Compulsive Disorder

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（ χ^2=10.42, P=0.005; χ^2=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.