Genetic polymorphism of dopamine D2 receptors in Parkinson's disease and interactions with cigarette smoking and MAO-B intron 13 polymorphism
Genetic polymorphism of dopamine D2 receptors in Parkinson's disease and interactions with cigarette smoking and MAO-B intron 13 polymorphism
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DOI：
10.1136/jnnp.69.4.535
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发表时间：
2000-10-01
影响因子：
11
通讯作者：
Checkoway, H
中科院分区：
文献类型：
--
作者：
Costa-Mallen, P;Costa, LG;Checkoway, H
多巴胺D2受体（DRD 2）的遗传多态性可能是帕金森病的易感因素，因为它们影响多巴胺反应并与吸烟相关，这与帕金森病的风险呈负相关。研究了TaqIA和TaqIB DRD 2基因型与帕金森病的关系，并测试了与吸烟和先前发现与吸烟相关的单胺氧化酶B（MAO-B）内含子13多态性的交互作用。研究对象为152例原发性帕金森病和231例对照。已知所有基因分型受试者的吸烟史。B12基因型的受试者在病例组中比对照组更常见（分别为27%和23.8%），在对照组中，“曾经吸烟者”比“从不吸烟者”更常见（分别为27.8%和17.2%），尽管这些关联没有统计学意义。TaqIA或TaqIB基因型均未改变吸烟与帕金森病的负相关关系。当DRD 2的基因型与MAO-B的内含子13的基因型相结合时，发现具有帕金森病高风险的基因型组合;尽管在Bonferroni校正多重比较后MAO-B/DRD 2相互作用未达到统计学显著性，但这些结果提示MAOB和DRD 2基因之间可能存在帕金森病的协同作用。
Genetic polymorphisms of dopamine D2 receptors (DRD2) may be susceptibility factors for Parkinson's disease due to their influence on dopamine response and association with cigarette smoking, which is inversely related to risk of Parkinson's disease. Relations of TaqIA and TaqIB DRD2 genotypes with Parkinson's disease were investigated and tested for interactive effects with smoking and the monoamine oxidase B (MAO-B) intron 13 polymorphism previously found to be related to smoking. Study subjects were 152 cases of idiopathic Parkinson's disease and 231 controls. The smoking history of all genotyped subjects was known. Subjects of genotype B12 were more frequent among cases than controls (27% and 23.8%, respectively), and were more frequent among "ever smokers" than "never smokers", among controls (27.8% and 17.2%, respectively), although these associations were not statistically significant. Neither TaqIA or TaqIB genotypes modified the inverse relation of smoking and Parkinson's disease. When genotypes for DRD2 were considered in combination with genotypes for intron 13 of MAO-B, genotype combinations with high risk of Parkinson's disease were found; although the MAO-B/DRD2 interaction did not reach statistical significance after Bonferroni correction for multiple comparisons, these results are suggestive of a possible synergism between MAOB and DRD2 genes with respect to Parkinson's disease.