多巴胺受体基因与强迫症的相关性研究

目的 探讨北方汉族人群中多巴胺2受体(DRD2)和多巴胺3受体(DRD3)基因与强迫症的关系.方法 采用聚合酶链反应扩增片段长度多态技术测定164例强迫症患者与175名正常对照的DRD2与DRD3多态性的基因型.结果 在DRD2和DRD3两个位点上强迫症组与对照组的基因型和等位基因频数分布差异无显著性(P>0.05),按性别分组后比较结果在DRD3位点基因型和等位基因频率女性与对照组之间差异存在显著性(P=0.016,P=0.021).比较共病组与对照组两个位点均差异有显著性(P<0.05),病例组三种基因型分别为(I/I:52例,I/D:7例;S/S:21例,S/G:31例,G/G:9例),对照组三种基因型分别为(I/I:102例,I/D:65例,D/D:8例,S/S:98例,S/G:67例,G/G:10例);无共病组与对照组在两个位点上差异无显著性(P>0.05).早发组在DRD:位点与对照组差异有显著性(P<0.05),病例组三种基因型分别为(I/I:67例,I/D:18例,D/D:1例),对照组三种基因型分别为(I/I:102例,I/D:65例,D/D:8例);不同临床表型比较发现,DRD2位点在既有强迫思维又有强迫行为这个亚型与对照组差异有显著性(x2=7.671,P=0.022;x2=6.197,P=0.013),DRD2位点在既有强迫思维又有强迫行为和仅有强迫行为和仅有强迫行为这两个亚型与对照组差异有显著性(P=0.005,P=0.001).既有强迫思维又有强迫行为组的等位基因与对照组比较差异有显著性(P=0.019).结论 DRD2多态性与强迫思维合并强迫行为的OCD亚型、早发型OCD的发病及OCD共病存在关联;DRD3基因多态性与OCD共病、女性OCD发病及既有强迫思维又有强迫行为和仅有强迫行为这两个亚型有关联.

Association between obsessive disorder and polymorphisms of dopamine receptor genes

Objective To explore the association between obsessive-compulsive disorder and polymorphisms of dopamine(DA) receptor genes: the dopamine D2 receptor( DRD2 ) 141C Ins/Del,and the dopamine D3 receptor( DRD3 ) 25A/G(9Ser/Gly) polymorphism in the northern Han nationality. Methods 164 OCD patients and 175 healthy controls were included in this study. The genotypes of DRD2 and DRD3 were determined with polymerase chain reaction amplification fragment length polymorphism techniques(PCR-RELP). Results Generally speaking, OCD patients did not show significant differences in genotype distribution and allele frequency for polymorphisms investigated relative to controls. However, when the sample was stratified by gender, age at onset,with or without comorbidity, and OCD symptom dimensions, there was a trend to a significant predominance of the DRD3 Gly/Gly genotype,and a higher frequency of the DRD3 Gly allele in female OCD patients compared to female controls. In addition,an association of the DRD2 Ins/Ins genotype or DRD2 Ins allele in patients with an early onset OCD was observed. Either DRD2 or DRD3 was significantly different between controls and subtype of OCD with comorbidities or OCD with obsession and compulsion in the genotype distribution and allele frequency. Conclusion The results provided support for a potential role of the DRD2 and DRD3 locus in subgroup of female, early onset patients, OCD with comorbidities, and OCD with obsession and compulsion. Further studies will need to investigate the differences between OCD genetics and clinical variables such as gender, age at onset and comorbidity of the disorder to improve the identification of OCD subtypes and genetic etiology.