Mitchell P, Selbie L, Waters B, Donald J, Vivero C, Tully M, Shine J
School of Psychiatry, University of New South Wales, Sydney, Australia.
J Affect Disord. 1992 May;25(1):1-11. doi: 10.1016/0165-0327(92)90087-m.
A potential role of dopamine in bipolar disorder has been suggested by several strands of evidence, namely the ability of dopaminergic agonists to induce mania and the effects of lithium, carbamazepine and the antipsychotics on central dopamine receptors and/or turnover. We therefore aimed to determine if bipolar disorder in two large bipolar pedigrees was linked to the recently cloned dopamine D1 (DRD1) and D2 (DRD2) receptors. (These have been mapped to chromosomal regions 5q35.1 and 11q22.3-q23, respectively). Linkage of bipolar disorder and recurrent depression to DRD1 and DRD2 was tested using a series of genetic models with varying penetrance levels. Additionally, linkage was examined using a series of levels of definitions of affective status (ranging from bipolar I alone to all affective illnesses). Close linkage to these markers was strongly excluded using each model and definition. The findings for DRD1 also persisted when a wide range of rates of 'sporadic' (non-genetic) presentations of illness were incorporated in the analysis, but the DRD2 results did not remain statistically significant at high sporadic rates. The exclusion of linkage to DRD2 is consistent with other recent reports.
多条证据表明多巴胺在双相情感障碍中可能发挥作用,即多巴胺能激动剂诱发躁狂的能力,以及锂盐、卡马西平和抗精神病药物对中枢多巴胺受体和/或多巴胺代谢的影响。因此,我们旨在确定两个大型双相情感障碍家系中的双相情感障碍是否与最近克隆的多巴胺D1(DRD1)和D2(DRD2)受体相关。(这两个受体基因分别定位于染色体区域5q35.1和11q22.3 - q23)。使用一系列具有不同外显率水平的遗传模型,对双相情感障碍和复发性抑郁症与DRD1和DRD2的连锁关系进行了检测。此外,还使用了一系列情感状态定义水平(从仅双相I型到所有情感性疾病)来检查连锁关系。使用每种模型和定义都强烈排除了与这些标记的紧密连锁。当分析中纳入广泛范围的疾病“散发”(非遗传)表现率时,DRD1的研究结果仍然成立,但在高散发率时,DRD2的结果不再具有统计学意义。排除与DRD2的连锁与其他近期报告一致。