Zhang Zhi Jun, Zhang Xiao Bin, Hou Gang, Yao Hui, Reynolds Gavin P
Department of Psychiatry, Nanjing Brain Hospital and Nanjing Medical University, Nanjing, People's Republic of China.
Psychiatr Genet. 2003 Sep;13(3):187-92. doi: 10.1097/00041444-200309000-00010.
To investigate the influence of a functional polymorphism of the dopamine D3 receptor (DRD3), and assess its interaction with a Mn superoxide dismutase (MnSOD) polymorphism, in contributing to tardive dyskinesia in a chronic inpatient population with schizophrenia.
Chinese Han patients with schizophrenia were assessed for abnormal involuntary movements, and subgroups of 42 patients with persistent tardive dyskinesia and 59 consistently without dyskinesias were assessed for the DRD3 ser9gly and the MnSOD ala-9val polymorphisms.
A higher, but not significant, frequency of DRD3 ser/gly heterozygotes was observed in the tardive dyskinesia group (0.52 versus 0.33, chi2=5, degrees of freedom=2, P=0.08). However, assessment of the combined influence of the two polymorphisms demonstrated a significant effect (chi2=8.09, degrees of freedom=3, P=0.04), whereby the combination of the MnSOD -9val and DRD3 9ser alleles was associated with tardive dyskinesia.
These results indicate a possible synergistic effect of genetic factors influencing mitochondrial free radical scavenging and dopamine receptor function on the susceptibility to tardive dyskinesia.
研究多巴胺D3受体（DRD3）功能多态性的影响，并评估其与锰超氧化物歧化酶（MnSOD）多态性的相互作用，以探讨其在慢性精神分裂症住院患者迟发性运动障碍中的作用。
对中国汉族精神分裂症患者进行异常不自主运动评估，对42例持续性迟发性运动障碍患者和59例无运动障碍患者的亚组进行DRD3 ser9gly和MnSOD ala-9val多态性评估。
迟发性运动障碍组中DRD3 ser/gly杂合子的频率较高，但无统计学意义（0.52对0.33，χ2=5，自由度=2，P=0.08）。然而，对两种多态性联合影响的评估显示出显著效应（χ2=8.09，自由度=3，P=0.04），其中MnSOD -9val和DRD3 9ser等位基因的组合与迟发性运动障碍相关。
这些结果表明，影响线粒体自由基清除和多巴胺受体功能的遗传因素可能对迟发性运动障碍的易感性产生协同作用。
