多巴胺β羟化酶基因G444A多态性可能与慢性精神分裂症患者迟发性运动障碍关联

目的观察广州地区汉族人群中有或无迟发性运动障碍(TD)精神分裂症患者中,多巴胺β羟化酶基因(dopamineβ-hydroxylase gene,DBH)外显子2单核苷酸多态性G444A的分布,并探讨该多态与迟发性运动障碍发生的关系.方法以196例慢性精神分裂症患者(67例伴TD,129例不伴TD)为对象进行病例-对照研究.用聚合酶链反应-限制性片段长度多态性方法分析DgH基因G444A多态性.结果TD组等位基因DBH44G频率显著高于非TD组(x2=12.71,P＜0.001),TD组GG及GA基因型频率也显著高于非TD组(P均＜0.05).结论DBH基因G444A多态性可能与慢性精神分裂症患者TD的发生关联.

The G444A Polymorphism in the Dopamine-β-Hydroxylase Gene May Be Associated with Neuroleptic-Induced Tardive Dyskinesia in Chronic Schizophrenia

Objective:To investigate the relationship of a G→A variation (G444A) in exon 2 of the dopamine-βhydroxylase gene (DBH) and tardive dyskinesia (TD) in chronic schizophrenia. Methods: Schizophrenic patients (67with and 129 without tardive dyskinesia) were genotyped for the G444A polymorphism in DBH gene by PCR-RFLP.The relationship of DBH variation to TD was analyzed. Results: No significant differences were observed in gender,age, duration of illness or total score on Abnormal Involuntary Movements Scale in patients with the three DBH genotypes while there was significant difference in current neuroleptic dosage. The frequency of DBH 444G allele in patients with TD was significantly higher than that in those without TD. An association of TD with the G allele was observed. Conclusions: The G444A polymorphism in DBH gene may confer susceptibility to neuroleptic-induced tardive dyskinesia in schizophrenia. To confirm these findings and to explore the possible role of dopamine βhydroxylase in the pathogenesis of TD, further studies are needed.